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chr22_37752514_G_A

chr22:37752514 · GRCh38GArs1925669996gnomAD AF 0.0033%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.256predicted occupancy decrease
FXR
-0.254predicted occupancy decrease
AhR
-0.529predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.529. Impact is large relative to 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
-1.05
gnomAD
AF 0.0033%
dbSNP
rs1925669996
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.256-0.254-0.5290.0033%
GC0.2530.2280.224not observed
GT0.1860.1470.153not observed

Every possible base substitution at chr22:37752514, 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