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chr11_57441831_C_T

chr11:57441831 · GRCh38CTrs1157828502gnomAD AF <0.001%receptor_confirmed

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

Receptor variant-effect scores

PXR
0.081Neutral
FXR
0.040Neutral
AhR
0.053Neutral
-1 LoF0+1 GoF

Strongest effect: PXR Neutral at p99-scaled 0.081. Impact is small 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
0.21
gnomAD
AF <0.001%
dbSNP
rs1157828502
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.103-0.0100.058not observed
CG0.1520.1010.164not observed
CT0.0810.0400.053<0.001%

Every possible base substitution at chr11:57441831, 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