Home / Variant

chr15_74725980_G_A

chr15:74725980 · GRCh38GArs1025395971receptor_confirmed

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

Receptor variant-effect scores

PXR
0.118GoF
FXR
0.194GoF
AhR
0.225GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.225. 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

phyloP conservation
-0.14
dbSNP
rs1025395971
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.1180.1940.225not observed
GC-0.525-0.680-0.635not observed
GT-0.174-0.341-0.388not observed

Every possible base substitution at chr15:74725980, 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