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chr15_39860484_G_A

chr15:39860484 · GRCh38GArs1330895160gnomAD 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
0.710predicted occupancy increase
FXR
0.949predicted occupancy increase
AhR
1.000predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase 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
-0.88
gnomAD
AF <0.001%
dbSNP
rs1330895160
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.7100.9491.000<0.001%
GC-0.052-0.023-0.029not observed
GT-0.0110.0740.112not observed

Every possible base substitution at chr15:39860484, 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