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chr22_36388133_C_T

chr22:36388133 · GRCh38CTrs2018389023receptor_confirmed

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

Receptor variant-effect scores

PXR
0.226predicted occupancy increase
FXR
-0.061small predicted occupancy change
AhR
0.188predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.226. 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
-0.26
dbSNP
rs2018389023
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.353-0.0610.200not observed
CG0.4990.0080.388not observed
CT0.226-0.0610.188not observed

Every possible base substitution at chr22:36388133, 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