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chr11_57311480_C_T

chr11:57311480 · GRCh38CTgnomAD AF 45.1%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.203predicted occupancy decrease
FXR
-0.084small predicted occupancy change
AhR
-0.094small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy decrease at p99-scaled -0.203. 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

GWAS Catalog
Triacylglycerol 36:0(FA12:0)
phyloP conservation
3.19 · conserved
gnomAD
AF 45.1%
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA-0.779-0.447-0.894not observed
CG0.2700.2360.365not observed
CT-0.203-0.084-0.09445.1%

Every possible base substitution at chr11:57311480, 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