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chr10_5147528_A_G

chr10:5147528 · GRCh38AGrs1441900402receptor_confirmed

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

Receptor variant-effect scores

PXR
-1.000predicted occupancy decrease
FXR
-1.000predicted occupancy decrease
AhR
-0.918predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy decrease 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

phyloP conservation
0.32
dbSNP
rs1441900402
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-0.235-0.386-0.135not observed
AG-1.000-1.000-0.918not observed
AT-0.566-0.688-0.494not observed

Every possible base substitution at chr10:5147528, 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