Home / Variant

chr6_52745786_T_C

chr6:52745786 · GRCh38TCrs2207949gnomAD AF 72.1%receptor_confirmed

Regulatory target GSTA2 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
0.171predicted occupancy increase
FXR
0.221predicted occupancy increase
AhR
0.132predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy increase at p99-scaled 0.221. Impact is moderate 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

GTEx liver eQTL
GSTA2, slope -0.39, p 1.1e-17
phyloP conservation
-1.35
gnomAD
AF 72.1%
dbSNP
rs2207949
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.1800.2110.135not observed
TC0.1710.2210.13272.1%
TG0.0480.0460.082not observed

Every possible base substitution at chr6:52745786, 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: PXR