Home / Variant

chr9_34612155_G_A

chr9:34612155 · GRCh38GArs900788153receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.268LoF
FXR
0.166GoF
AhR
0.144GoF
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -0.268. 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
3.81 · conserved
dbSNP
rs900788153
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.2680.1660.144not observed
GC-0.285-0.003-0.288not observed
GT0.2850.2590.575not observed

Every possible base substitution at chr9:34612155, 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