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chr4_88062946_C_G

chr4:88062946 · GRCh38CGrs1720633968receptor_confirmed

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

Receptor variant-effect scores

PXR
0.524predicted occupancy increase
FXR
0.548predicted occupancy increase
AhR
0.306predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy increase at p99-scaled 0.548. 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
-0.42
dbSNP
rs1720633968
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.6940.6950.376not observed
CG0.5240.5480.306not observed
CT0.1430.1780.059not observed

Every possible base substitution at chr4:88062946, 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