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chr9_113275656_A_T

chr9:113275656 · GRCh38ATrs541873609receptor_confirmed

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

Receptor variant-effect scores

PXR
0.168predicted occupancy increase
FXR
-0.061small predicted occupancy change
AhR
-0.118predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.168. 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
1.77
dbSNP
rs541873609
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.070-0.135-0.165not observed
AG0.082-0.086-0.176not observed
AT0.168-0.061-0.118not observed

Every possible base substitution at chr9:113275656, 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: FXR