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chr20_62027368_C_T

chr20:62027368 · GRCh38CTrs1338996901gnomAD AF <0.001%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.173predicted occupancy decrease
FXR
-0.152predicted occupancy decrease
AhR
-0.171predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy decrease at p99-scaled -0.173. 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
0.66
gnomAD
AF <0.001%
dbSNP
rs1338996901
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-0.185-0.157-0.194not observed
CG-0.125-0.122-0.088not observed
CT-0.173-0.152-0.171<0.001%

Every possible base substitution at chr20:62027368, 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