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chr8_27703110_C_G

chr8:27703110 · GRCh38CGrs1350018521gnomAD 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
0.438predicted occupancy increase
FXR
0.321predicted occupancy increase
AhR
0.359predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.438. 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
0.67
gnomAD
AF <0.001%
dbSNP
rs1350018521
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.0280.041-0.047not observed
CG0.4380.3210.359<0.001%
CT0.1760.2770.059not observed

Every possible base substitution at chr8:27703110, 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