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chr10_94673794_C_T

chr10:94673794 · GRCh38CTrs1161522348receptor_confirmed

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

Receptor variant-effect scores

PXR
0.210GoF
FXR
0.306GoF
AhR
0.386GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.386. 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
0.49
dbSNP
rs1161522348
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.1560.2300.228not observed
CG0.2200.2910.497not observed
CT0.2100.3060.386not observed

Every possible base substitution at chr10:94673794, 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