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chr8_8657365_A_G

chr8:8657365 · GRCh38AGrs1801371525receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.156predicted occupancy decrease
FXR
-0.213predicted occupancy decrease
AhR
-0.079small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.213. 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
0.18
dbSNP
rs1801371525
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.1520.2490.185not observed
AG-0.156-0.213-0.079not observed
AT-0.0050.0430.041not observed

Every possible base substitution at chr8:8657365, 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