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chr22_36160539_T_C

chr22:36160539 · GRCh38TCrs1470756402gnomAD AF 0.0039%receptor_confirmed

For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
0.024Neutral
FXR
0.052Neutral
AhR
0.140GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.140. Impact is small on the receptor-specific p99 scale.

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

phyloP conservation
0.00
gnomAD
AF 0.0039%
dbSNP
rs1470756402
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.0290.0470.073not observed
TC0.0240.0520.1400.0039%
TG0.0560.0700.140not observed

Every possible base substitution at chr22:36160539, 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