Home / Gene
CYP8B1
receptor: FXRTier 1
Prior gene annotation
Retained explanatory context, not the pharmacist's submitted wording; submitted reviews below take precedence.
Drug substrates (prior annotation)
none in routine clinical use, endogenous or bile acid pathway
refs: 15550563
CAMIP Tier 1: peak-anchored panel
FXR
Submitted decision (verbatim): 接受
No revision text or notes were submitted.
Prior explanatory context
Retained explanatory context, not the pharmacist's submitted wording. The submitted review above takes precedence; this context is not a replacement for the reviewer's revision or notes.
- Inducer
- Obeticholic acid; Experimental GW4064
- Regulatory element
- in distal enhancer +19834 bp
- Predicted consequence
- Altered receptor-mediated feedback repression of CYP8B1, shifting the cholic acid to chenodeoxycholic acid synthesis ratio in endogenous bile acid pathways.
- Prior narrative
- Altered receptor-mediated feedback repression of CYP8B1, shifting the cholic acid to chenodeoxycholic acid synthesis ratio in endogenous bile acid pathways.
- Drug context
- none in routine clinical use, endogenous or bile acid pathway
- Prior references
- 15550563
Scored variants near CYP8B1
chr3:42,772,191..42,975,879, gene body plus 100 kb. Showing the strongest 200 by effect size.
| Variant | Position | PXR | FXR | AhR | AF |
|---|---|---|---|---|---|
| chr3_42804703_T_G | chr3:42804703 | 0.466 | 0.447 | 1.000 | — |
| chr3_42804558_A_T | chr3:42804558 | 0.609 | 0.602 | 0.694 | <0.001% |
| chr3_42804607_T_C | chr3:42804607 | 0.591 | -0.345 | 0.506 | — |
| chr3_42804709_G_C | chr3:42804709 | 0.581 | 0.360 | 0.412 | — |
| chr3_42804827_G_T | chr3:42804827 | 0.097 | 0.203 | 0.941 | 0.0013% |
| chr3_42804710_G_A | chr3:42804710 | 0.524 | 0.365 | 0.353 | — |
| chr3_42804609_G_A | chr3:42804609 | 0.512 | -0.195 | 0.576 | — |
| chr3_42804708_G_C | chr3:42804708 | 0.509 | 0.302 | 0.306 | — |
| chr3_42804609_G_C | chr3:42804609 | 0.486 | -0.264 | 0.541 | — |
| chr3_42804709_G_A | chr3:42804709 | 0.484 | 0.203 | 0.118 | 0.011% |
| chr3_42804709_G_T | chr3:42804709 | 0.476 | 0.302 | 0.329 | — |
| chr3_42804532_A_G | chr3:42804532 | 0.468 | -0.190 | 0.388 | — |
| chr3_42804560_G_A | chr3:42804560 | 0.013 | 0.000 | 0.824 | <0.001% |
| chr3_42804708_G_A | chr3:42804708 | 0.466 | 0.292 | 0.176 | <0.001% |
| chr3_42804707_G_A | chr3:42804707 | 0.454 | 0.353 | 0.376 | 0.0020% |
| chr3_42804625_C_A | chr3:42804625 | -0.443 | 0.028 | -0.329 | — |
| chr3_42804609_G_T | chr3:42804609 | 0.434 | -0.332 | 0.365 | — |
| chr3_42804707_G_C | chr3:42804707 | 0.434 | 0.396 | 0.506 | — |
| chr3_42804710_G_C | chr3:42804710 | 0.424 | 0.315 | 0.482 | — |
| chr3_42804605_A_C | chr3:42804605 | 0.423 | -0.322 | 0.565 | — |
| chr3_42804607_T_G | chr3:42804607 | 0.414 | -0.302 | 0.529 | — |
| chr3_42804576_C_G | chr3:42804576 | 0.403 | 0.046 | 0.024 | — |
| chr3_42804708_G_T | chr3:42804708 | 0.403 | 0.302 | 0.271 | — |
| chr3_42804606_T_C | chr3:42804606 | 0.399 | -0.259 | 0.565 | — |
| chr3_42804707_G_T | chr3:42804707 | 0.389 | 0.244 | 0.294 | — |
| chr3_42804578_G_C | chr3:42804578 | -0.058 | -0.046 | 0.682 | — |
| chr3_42804577_G_A | chr3:42804577 | 0.186 | 0.287 | 0.659 | <0.001% |
| chr3_42804664_G_C | chr3:42804664 | 0.143 | 0.124 | 0.647 | — |
| chr3_42804611_T_A | chr3:42804611 | 0.353 | -0.058 | 0.365 | — |
| chr3_42804530_C_A | chr3:42804530 | 0.338 | -0.414 | 0.082 | — |
| chr3_42804562_G_A | chr3:42804562 | -0.203 | 0.081 | -0.565 | — |
| chr3_42804635_A_G | chr3:42804635 | 0.318 | 0.226 | 0.153 | — |
| chr3_42804559_C_G | chr3:42804559 | -0.150 | -0.180 | -0.541 | — |
| chr3_42804612_G_T | chr3:42804612 | 0.306 | -0.041 | 0.376 | — |
| chr3_42804531_C_T | chr3:42804531 | 0.303 | -0.266 | 0.224 | — |
| chr3_42804711_C_A | chr3:42804711 | 0.303 | 0.213 | 0.247 | — |
| chr3_42804692_C_A | chr3:42804692 | 0.250 | 0.157 | 0.506 | — |
| chr3_42804593_A_G | chr3:42804593 | 0.283 | -0.157 | 0.212 | — |
| chr3_42804608_G_A | chr3:42804608 | 0.283 | -0.264 | 0.494 | — |
| chr3_42804687_G_C | chr3:42804687 | 0.281 | 0.165 | 0.071 | — |
| chr3_42804534_T_G | chr3:42804534 | 0.280 | -0.373 | 0.271 | — |
| chr3_42804756_T_G | chr3:42804756 | 0.278 | 0.272 | 0.353 | — |
| chr3_42804605_A_T | chr3:42804605 | 0.276 | -0.327 | 0.388 | — |
| chr3_42804847_G_A | chr3:42804847 | 0.020 | -0.089 | -0.482 | — |
| chr3_42804532_A_C | chr3:42804532 | 0.271 | -0.335 | 0.235 | — |
| chr3_42804606_T_G | chr3:42804606 | 0.268 | -0.305 | 0.412 | — |
| chr3_42804711_C_T | chr3:42804711 | 0.268 | 0.228 | 0.176 | — |
| chr3_42804606_T_A | chr3:42804606 | 0.266 | -0.363 | 0.471 | — |
| chr3_42804610_C_G | chr3:42804610 | -0.025 | -0.327 | 0.471 | — |
| chr3_42804616_C_A | chr3:42804616 | 0.243 | 0.287 | 0.471 | — |
| chr3_42804733_T_A | chr3:42804733 | 0.140 | 0.234 | 0.471 | — |
| chr3_42804757_C_G | chr3:42804757 | 0.265 | 0.325 | 0.271 | — |
| chr3_42804566_G_A | chr3:42804566 | 0.263 | -0.089 | 0.459 | 0.0013% |
| chr3_42804833_G_T | chr3:42804833 | 0.130 | -0.071 | -0.459 | — |
| chr3_42804517_A_C | chr3:42804517 | 0.258 | -0.003 | -0.012 | — |
| chr3_42804559_C_A | chr3:42804559 | -0.253 | -0.033 | -0.259 | — |
| chr3_42804578_G_T | chr3:42804578 | -0.095 | -0.023 | 0.447 | — |
| chr3_42804528_A_T | chr3:42804528 | -0.246 | -0.056 | 0.106 | — |
| chr3_42804604_G_C | chr3:42804604 | 0.245 | -0.173 | 0.365 | — |
| chr3_42804630_C_A | chr3:42804630 | 0.245 | 0.188 | 0.035 | — |
| chr3_42804706_A_T | chr3:42804706 | 0.245 | 0.178 | 0.247 | — |
| chr3_42804608_G_C | chr3:42804608 | 0.241 | -0.312 | 0.224 | — |
| chr3_42804562_G_C | chr3:42804562 | -0.025 | -0.020 | -0.424 | — |
| chr3_42804669_G_C | chr3:42804669 | -0.038 | 0.431 | 0.424 | 0.0013% |
| chr3_42804711_C_G | chr3:42804711 | 0.240 | 0.223 | 0.153 | — |
| chr3_42804628_G_A | chr3:42804628 | 0.231 | 0.249 | 0.412 | — |
| chr3_42804534_T_A | chr3:42804534 | 0.231 | -0.226 | 0.200 | — |
| chr3_42804726_C_A | chr3:42804726 | 0.231 | 0.206 | 0.247 | — |
| chr3_42804529_G_C | chr3:42804529 | -0.230 | -0.310 | -0.271 | — |
| chr3_42804530_C_G | chr3:42804530 | 0.228 | -0.203 | 0.200 | — |
| chr3_42804560_G_T | chr3:42804560 | 0.228 | 0.071 | 0.247 | — |
| chr3_42804557_G_C | chr3:42804557 | 0.007 | -0.023 | 0.400 | — |
| chr3_42804563_T_A | chr3:42804563 | -0.023 | -0.140 | -0.400 | — |
| chr3_42804563_T_G | chr3:42804563 | -0.067 | -0.089 | -0.400 | — |
| chr3_42804564_G_C | chr3:42804564 | -0.052 | -0.099 | -0.400 | — |
| chr3_42804706_A_C | chr3:42804706 | 0.226 | 0.107 | 0.176 | — |
| chr3_42804846_T_G | chr3:42804846 | 0.211 | 0.058 | 0.400 | — |
| chr3_42804603_G_A | chr3:42804603 | 0.225 | -0.132 | 0.153 | — |
| chr3_42804621_A_G | chr3:42804621 | -0.225 | 0.033 | 0.153 | — |
| chr3_42804605_A_G | chr3:42804605 | 0.218 | -0.231 | 0.388 | — |
| chr3_42804660_G_C | chr3:42804660 | 0.062 | 0.071 | 0.388 | — |
| chr3_42804838_G_C | chr3:42804838 | 0.083 | 0.069 | 0.388 | — |
| chr3_42804516_C_G | chr3:42804516 | -0.218 | 0.041 | 0.012 | — |
| chr3_42804625_C_G | chr3:42804625 | -0.215 | 0.053 | -0.047 | 0.103% |
| chr3_42804578_G_A | chr3:42804578 | -0.062 | -0.051 | 0.376 | 0.0020% |
| chr3_42804580_T_G | chr3:42804580 | 0.068 | -0.003 | -0.376 | — |
| chr3_42804620_G_C | chr3:42804620 | 0.153 | 0.003 | 0.376 | — |
| chr3_42804634_T_G | chr3:42804634 | 0.213 | 0.173 | 0.329 | — |
| chr3_42804816_G_C | chr3:42804816 | 0.063 | 0.079 | 0.376 | — |
| chr3_42804652_C_T | chr3:42804652 | -0.211 | 0.223 | -0.176 | — |
| chr3_42804568_G_C | chr3:42804568 | -0.180 | -0.020 | -0.365 | — |
| chr3_42804627_G_C | chr3:42804627 | -0.206 | -0.018 | -0.282 | — |
| chr3_42804843_G_A | chr3:42804843 | 0.125 | -0.056 | -0.365 | — |
| chr3_42804623_T_G | chr3:42804623 | -0.183 | 0.023 | -0.353 | — |
| chr3_42804633_C_G | chr3:42804633 | 0.200 | 0.043 | 0.082 | — |
| chr3_42804651_A_G | chr3:42804651 | 0.088 | -0.038 | 0.353 | — |
| chr3_42804657_G_C | chr3:42804657 | 0.108 | 0.015 | 0.353 | — |
| chr3_42804663_A_T | chr3:42804663 | -0.038 | 0.208 | 0.353 | 0.030% |
| chr3_42804716_G_T | chr3:42804716 | -0.058 | -0.140 | -0.353 | — |
| chr3_42804551_C_G | chr3:42804551 | -0.198 | -0.008 | 0.153 | — |
| chr3_42804660_G_A | chr3:42804660 | -0.198 | 0.178 | 0.141 | 0.0013% |
| chr3_42804604_G_A | chr3:42804604 | 0.196 | -0.241 | 0.318 | — |
| chr3_42804557_G_T | chr3:42804557 | -0.072 | -0.010 | -0.341 | — |
| chr3_42804611_T_C | chr3:42804611 | 0.193 | -0.102 | 0.129 | <0.001% |
| chr3_42804697_G_T | chr3:42804697 | 0.105 | 0.112 | 0.341 | — |
| chr3_42804649_G_C | chr3:42804649 | -0.191 | 0.104 | -0.129 | — |
| chr3_42804633_C_A | chr3:42804633 | 0.190 | 0.102 | 0.188 | — |
| chr3_42804631_C_T | chr3:42804631 | 0.188 | 0.041 | 0.212 | — |
| chr3_42804520_G_T | chr3:42804520 | -0.186 | -0.030 | -0.200 | — |
| chr3_42804564_G_T | chr3:42804564 | 0.017 | -0.061 | -0.329 | — |
| chr3_42804594_G_C | chr3:42804594 | 0.186 | 0.015 | 0.165 | — |
| chr3_42804612_G_C | chr3:42804612 | 0.186 | -0.079 | 0.188 | — |
| chr3_42804775_C_T | chr3:42804775 | 0.067 | -0.061 | -0.329 | — |
| chr3_42804594_G_T | chr3:42804594 | 0.183 | 0.033 | 0.118 | — |
| chr3_42804705_G_A | chr3:42804705 | 0.183 | 0.117 | 0.047 | — |
| chr3_42804565_C_A | chr3:42804565 | 0.180 | 0.058 | 0.141 | — |
| chr3_42804577_G_T | chr3:42804577 | 0.077 | 0.061 | 0.318 | — |
| chr3_42804604_G_T | chr3:42804604 | 0.180 | -0.180 | 0.271 | — |
| chr3_42804733_T_G | chr3:42804733 | 0.116 | 0.165 | 0.318 | <0.001% |
| chr3_42804811_C_G | chr3:42804811 | 0.022 | -0.015 | 0.318 | — |
| chr3_42804556_G_T | chr3:42804556 | -0.175 | 0.165 | 0.000 | — |
| chr3_42804666_C_G | chr3:42804666 | 0.175 | -0.041 | 0.071 | — |
| chr3_42804550_G_A | chr3:42804550 | 0.161 | 0.028 | 0.306 | — |
| chr3_42804652_C_A | chr3:42804652 | -0.100 | -0.028 | 0.306 | — |
| chr3_42804687_G_A | chr3:42804687 | 0.170 | 0.081 | -0.035 | 0.059% |
| chr3_42804732_C_T | chr3:42804732 | 0.168 | 0.109 | 0.118 | — |
| chr3_42804580_T_C | chr3:42804580 | -0.023 | -0.109 | -0.294 | — |
| chr3_42804611_T_G | chr3:42804611 | 0.166 | -0.165 | 0.047 | — |
| chr3_42804643_T_C | chr3:42804643 | -0.042 | 0.033 | 0.294 | — |
| chr3_42804691_G_C | chr3:42804691 | -0.095 | -0.043 | -0.294 | — |
| chr3_42804712_T_A | chr3:42804712 | 0.153 | 0.137 | 0.294 | — |
| chr3_42804712_T_G | chr3:42804712 | 0.161 | 0.071 | 0.294 | — |
| chr3_42804819_G_T | chr3:42804819 | -0.022 | -0.025 | -0.294 | — |
| chr3_42804541_C_T | chr3:42804541 | 0.165 | 0.249 | 0.129 | — |
| chr3_42804575_G_T | chr3:42804575 | -0.165 | 0.084 | 0.024 | — |
| chr3_42804584_G_C | chr3:42804584 | -0.161 | -0.074 | -0.012 | — |
| chr3_42804758_C_A | chr3:42804758 | 0.161 | 0.239 | 0.141 | — |
| chr3_42804529_G_T | chr3:42804529 | -0.160 | -0.074 | -0.118 | — |
| chr3_42804559_C_T | chr3:42804559 | -0.155 | -0.091 | -0.282 | — |
| chr3_42804567_T_G | chr3:42804567 | 0.160 | -0.114 | 0.118 | — |
| chr3_42804613_G_T | chr3:42804613 | 0.160 | 0.013 | 0.000 | — |
| chr3_42804664_G_T | chr3:42804664 | -0.018 | 0.150 | 0.282 | — |
| chr3_42804698_G_C | chr3:42804698 | 0.160 | 0.241 | 0.235 | — |
| chr3_42804751_C_A | chr3:42804751 | 0.018 | -0.109 | -0.282 | — |
| chr3_42804793_T_G | chr3:42804793 | 0.012 | -0.061 | -0.282 | — |
| chr3_42804821_C_G | chr3:42804821 | 0.018 | 0.056 | 0.282 | 0.0013% |
| chr3_42804550_G_T | chr3:42804550 | 0.155 | 0.142 | 0.247 | — |
| chr3_42804607_T_A | chr3:42804607 | 0.155 | -0.096 | 0.141 | — |
| chr3_42804618_G_T | chr3:42804618 | -0.155 | 0.107 | -0.212 | — |
| chr3_42804722_G_T | chr3:42804722 | 0.155 | 0.157 | 0.235 | — |
| chr3_42804553_A_T | chr3:42804553 | 0.153 | 0.089 | 0.165 | — |
| chr3_42804556_G_A | chr3:42804556 | -0.082 | -0.104 | -0.271 | — |
| chr3_42804565_C_G | chr3:42804565 | -0.080 | -0.071 | -0.271 | — |
| chr3_42804734_C_G | chr3:42804734 | 0.140 | 0.206 | 0.271 | — |
| chr3_42804752_C_G | chr3:42804752 | 0.005 | -0.094 | -0.271 | — |
| chr3_42804839_A_C | chr3:42804839 | 0.050 | 0.058 | 0.271 | — |
| chr3_42804757_C_A | chr3:42804757 | 0.151 | 0.193 | 0.176 | <0.001% |
| chr3_42804696_C_A | chr3:42804696 | 0.150 | 0.173 | 0.106 | — |
| chr3_42804712_T_C | chr3:42804712 | 0.150 | 0.140 | 0.259 | — |
| chr3_42804537_G_T | chr3:42804537 | -0.146 | -0.069 | -0.141 | — |
| chr3_42804584_G_T | chr3:42804584 | 0.082 | -0.028 | 0.259 | — |
| chr3_42804658_G_T | chr3:42804658 | -0.022 | 0.119 | 0.259 | — |
| chr3_42804667_G_T | chr3:42804667 | -0.077 | -0.084 | -0.259 | — |
| chr3_42804700_C_A | chr3:42804700 | -0.082 | -0.129 | -0.259 | — |
| chr3_42804706_A_G | chr3:42804706 | -0.146 | -0.145 | -0.165 | — |
| chr3_42804745_T_A | chr3:42804745 | 0.146 | 0.140 | 0.106 | — |
| chr3_42804816_G_T | chr3:42804816 | 0.005 | 0.084 | 0.259 | — |
| chr3_42804825_C_G | chr3:42804825 | -0.042 | -0.030 | -0.259 | — |
| chr3_42804705_G_C | chr3:42804705 | 0.145 | 0.084 | 0.024 | — |
| chr3_42804734_C_T | chr3:42804734 | 0.145 | 0.218 | 0.153 | — |
| chr3_42804690_C_A | chr3:42804690 | 0.143 | 0.114 | 0.047 | — |
| chr3_42804699_G_T | chr3:42804699 | 0.143 | 0.168 | 0.247 | — |
| chr3_42804576_C_T | chr3:42804576 | -0.141 | 0.104 | -0.129 | — |
| chr3_42804595_C_G | chr3:42804595 | -0.141 | -0.036 | 0.118 | — |
| chr3_42804608_G_T | chr3:42804608 | 0.141 | -0.299 | 0.224 | — |
| chr3_42804553_A_C | chr3:42804553 | 0.095 | 0.091 | 0.247 | — |
| chr3_42804561_C_A | chr3:42804561 | 0.015 | 0.020 | -0.247 | — |
| chr3_42804564_G_A | chr3:42804564 | -0.140 | 0.137 | -0.188 | — |
| chr3_42804629_C_T | chr3:42804629 | 0.065 | -0.157 | -0.247 | — |
| chr3_42804658_G_C | chr3:42804658 | 0.053 | 0.107 | 0.247 | — |
| chr3_42804786_A_C | chr3:42804786 | 0.043 | -0.051 | 0.247 | — |
| chr3_42804840_T_G | chr3:42804840 | -0.008 | 0.041 | 0.247 | — |
| chr3_42804630_C_T | chr3:42804630 | 0.138 | 0.086 | -0.059 | — |
| chr3_42804565_C_T | chr3:42804565 | 0.136 | -0.010 | -0.212 | — |
| chr3_42804838_G_T | chr3:42804838 | 0.136 | -0.005 | -0.165 | — |
| chr3_42804632_A_T | chr3:42804632 | 0.135 | 0.086 | 0.024 | — |
| chr3_42804749_G_C | chr3:42804749 | 0.135 | 0.030 | 0.035 | — |
| chr3_42804573_C_T | chr3:42804573 | -0.111 | 0.135 | 0.235 | — |
| chr3_42804626_T_C | chr3:42804626 | -0.133 | 0.053 | -0.188 | — |
| chr3_42804646_A_T | chr3:42804646 | 0.040 | 0.198 | 0.235 | — |
| chr3_42804675_T_A | chr3:42804675 | 0.083 | 0.048 | 0.235 | — |
| chr3_42804700_C_G | chr3:42804700 | -0.092 | -0.152 | -0.235 | — |
| chr3_42804702_C_A | chr3:42804702 | 0.017 | -0.046 | -0.235 | — |
| chr3_42804703_T_A | chr3:42804703 | 0.060 | 0.008 | 0.235 | — |
| chr3_42804734_C_A | chr3:42804734 | 0.080 | 0.203 | 0.235 | — |
| chr3_42804771_G_T | chr3:42804771 | -0.002 | 0.074 | 0.235 | — |
| chr3_42804815_G_A | chr3:42804815 | 0.002 | -0.013 | -0.235 | 0.0099% |
| chr3_42804824_A_T | chr3:42804824 | -0.040 | -0.025 | -0.235 | — |
| chr3_42804840_T_C | chr3:42804840 | 0.030 | 0.058 | 0.235 | — |
| chr3_42804717_C_T | chr3:42804717 | -0.128 | -0.109 | -0.106 | — |
Showing 200 of 200 in this window. Scores are the p99-scaled [−1, 1] value; click a column to sort.