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chr3_149224171_G_T

chr3:149224171 · GRCh38GTrs7623663gnomAD AF 12.0%receptor_confirmed

Regulatory target ENSG00000286714 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
0.119predicted occupancy increase
FXR
-0.051small predicted occupancy change
AhR
0.203predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase at p99-scaled 0.203. 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
ENSG00000286714, slope -0.65, p 1.7e-13
phyloP conservation
-1.64
gnomAD
AF 12.0%
dbSNP
rs7623663
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.087-0.0940.218not observed
GC0.141-0.0130.215not observed
GT0.119-0.0510.20312.0%

Every possible base substitution at chr3:149224171, 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: PXRFXR

Multi receptor overlap: PXR,FXR