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chr11_236845_T_C

chr11:236845 · GRCh38TCrs1859230842gnomAD AF 0.0013%receptor_confirmed

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

Receptor variant-effect scores

PXR
0.124GoF
FXR
0.035Neutral
AhR
-0.035Neutral
-1 LoF0+1 GoF

Strongest effect: PXR GoF at p99-scaled 0.124. 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
-3.39
gnomAD
AF 0.0013%
dbSNP
rs1859230842
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.137-0.020-0.117not observed
TC0.1240.035-0.0350.0013%
TG-0.109-0.045-0.152not observed

Every possible base substitution at chr11:236845, 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