Home / Variant

chr17_47189144_A_G

chr17:47189144 · GRCh38AGrs1598637142receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.173predicted occupancy decrease
FXR
-0.193predicted occupancy decrease
AhR
0.176predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.193. 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

ClinVar
Uncertain significance
phyloP conservation
6.48 · conserved
dbSNP
rs1598637142
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC-0.150-0.2160.165not observed
AG-0.173-0.1930.176not observed
AT-0.226-0.2790.235not observed

Every possible base substitution at chr17:47189144, 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