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chr11_67256255_C_T

chr11:67256255 · GRCh38CTrs539947476gnomAD AF 0.0059%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.002small predicted occupancy change
FXR
-0.005small predicted occupancy change
AhR
-0.062small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: AhR small predicted occupancy change at p99-scaled -0.062. 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
3.01 · conserved
gnomAD
AF 0.0059%
dbSNP
rs539947476
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-0.0080.015-0.0180.0020%
CG-0.003-0.0030.003not observed
CT-0.002-0.005-0.0620.0059%

Every possible base substitution at chr11:67256255, 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