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chr16_21502592_G_C

chr16:21502592 · GRCh38GCrs1195617518receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.307LoF
FXR
-0.259LoF
AhR
-0.848LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.848. 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
0.59
dbSNP
rs1195617518
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.107-0.063-0.028not observed
GC-0.307-0.259-0.848not observed
GT-0.307-0.262-0.860not observed

Every possible base substitution at chr16:21502592, 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