Home / Variant

chr4_88107631_A_C

chr4:88107631 · GRCh38ACrs1428147127receptor_confirmed

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

Receptor variant-effect scores

PXR
-1.000LoF
FXR
-1.000LoF
AhR
-0.336LoF
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -1.000. Impact is at or beyond the receptor-specific p99 reference magnitude.

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

FIMO motif overlap
HNF4A · MA0114.5
phyloP conservation
1.18
dbSNP
rs1428147127
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-1.000-1.000-0.336not observed
AG-1.000-1.000-0.379not observed
AT-1.000-1.000-0.690not observed

Every possible base substitution at chr4:88107631, 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: PXRFXR

Multi receptor overlap: PXR,FXR

Motif overlap

This base overlaps a significant FIMO hit for HNF4A using JASPAR MA0114.5.

Motif overlap is an independent sequence annotation; the AetherXeno score comes from the receptor-finetuned sequence model and is not inferred from the motif alone. View the locus in UCSC Genome Browser or the JASPAR profile.