Home / Variant

chr17_46934988_T_G

chr17:46934988 · GRCh38TGrs1286611319receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.029Neutral
FXR
-0.028Neutral
AhR
0.028Neutral
-1 LoF0+1 GoF

Strongest effect: PXR Neutral at p99-scaled -0.029. Impact is small 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
-0.25
dbSNP
rs1286611319
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-0.002-0.010-0.028not observed
TC-0.014-0.0230.034not observed
TG-0.029-0.0280.028not observed

Every possible base substitution at chr17:46934988, 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