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chr9_113275660_A_C

chr9:113275660 · GRCh38ACrs541873609receptor_confirmed

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

Receptor variant-effect scores

PXR
0.074Neutral
FXR
-0.121LoF
AhR
-0.275LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.275. 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
0.47
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
AC0.074-0.121-0.275not observed
AG0.066-0.054-0.183not observed
AT0.097-0.121-0.314not observed

Every possible base substitution at chr9:113275660, 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