Home / Variant

chr7_150323144_G_T

chr7:150323144 · GRCh38GTrs945721082receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.532LoF
FXR
-0.770LoF
AhR
-0.706LoF
-1 LoF0+1 GoF

Strongest effect: FXR LoF at p99-scaled -0.770. Impact is large relative to 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
-2.81
dbSNP
rs945721082
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-0.091-0.492-0.510not observed
GC-0.276-0.767-0.863not observed
GT-0.532-0.770-0.706not observed

Every possible base substitution at chr7:150323144, 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