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chr20_13424514_T_G

chr20:13424514 · GRCh38TGrs780902854receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.537predicted occupancy decrease
FXR
-0.891predicted occupancy decrease
AhR
-0.588predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.891. 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
-0.10
dbSNP
rs780902854
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-0.319-0.530-0.385not observed
TC-0.398-0.657-0.394not observed
TG-0.537-0.891-0.588not observed

Every possible base substitution at chr20:13424514, 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