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chr12_47346753_T_C

chr12:47346753 · GRCh38TCrs11183895gnomAD AF 8.19%receptor_confirmed

Regulatory target LINC02156 is taken from a GTEx liver eQTL, not from distance. For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
1.000GoF
FXR
0.705GoF
AhR
0.386GoF
-1 LoF0+1 GoF

Strongest effect: PXR GoF at p99-scaled 1.000. Impact is at or beyond the receptor-specific p99 reference magnitude.

The p99-scaled score divides the raw delta by the receptor-specific 99th percentile of |delta| in the reference peak population, then clips to −1 to 1. It is a comparable effect scale, not a percentile rank. AhR is exploratory, from a single replicate.

Cross-annotations

GTEx liver eQTL
LINC02156, slope -0.53, p 2.7e-7
phyloP conservation
-0.66
gnomAD
AF 8.19%
dbSNP
rs11183895
Region tier
receptor_confirmed

Mirrored from ClinVar, GTEx, GWAS Catalog, JASPAR/FIMO, gnomAD and phyloP. See Databases.

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.5450.5040.269not observed
TC1.0000.7050.3868.19%
TG0.9220.8310.444not observed

Every possible base substitution at chr12:47346753, each scored independently and shown as p99-scaled scores. The gnomAD column shows which substitution is actually seen in the population versus in silico only. Region confidence is the same for every substitution at this position, so it is shown once in the section below.

Region confidence

In receptor peaks: FXR