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chr1_15893501_A_G

chr1:15893501 · GRCh38AGrs2070809446receptor_confirmed

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

Receptor variant-effect scores

PXR
0.063small predicted occupancy change
FXR
0.063small predicted occupancy change
AhR
0.253predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase at p99-scaled 0.253. 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
1.04
dbSNP
rs2070809446
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.0150.0130.253not observed
AG0.0630.0630.253not observed
AT-0.014-0.0050.041not observed

Every possible base substitution at chr1:15893501, 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