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chr15_74725966_G_C

chr15:74725966 · GRCh38GCrs2063212482receptor_confirmed

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

Receptor variant-effect scores

PXR
0.331GoF
FXR
0.164GoF
AhR
0.320GoF
-1 LoF0+1 GoF

Strongest effect: PXR GoF at p99-scaled 0.331. 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
0.02
dbSNP
rs2063212482
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0510.006-0.2130.0013%
GC0.3310.1640.320not observed
GT0.1250.1130.157not observed

Every possible base substitution at chr15:74725966, 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: AhR