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chr2_20525117_A_T

chr2:20525117 · GRCh38ATrs1331366213receptor_confirmed

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

Receptor variant-effect scores

PXR
0.158predicted occupancy increase
FXR
0.074small predicted occupancy change
AhR
0.153predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.158. 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
-1.04
dbSNP
rs1331366213
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC-0.028-0.028-0.059not observed
AG0.007-0.0050.088not observed
AT0.1580.0740.153not observed

Every possible base substitution at chr2:20525117, 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: FXR