Home / Variant

chr15_74725997_C_G

chr15:74725997 · GRCh38CGrs1376321031receptor_confirmed

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

Receptor variant-effect scores

PXR
0.552GoF
FXR
0.263GoF
AhR
1.000GoF
-1 LoF0+1 GoF

Strongest effect: AhR 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

phyloP conservation
-0.45
dbSNP
rs1376321031
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA-0.089-0.3120.112not observed
CG0.5520.2631.000not observed
CT-0.087-0.1120.618<0.001%

Every possible base substitution at chr15:74725997, 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: PXRAhR

Multi receptor overlap: PXR,AhR