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chr1_16367089_A_C

chr1:16367089 · GRCh38ACrs2082832092receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.179LoF
FXR
0.045Neutral
AhR
-0.023Neutral
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -0.179. Impact is small 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
0.90
dbSNP
rs2082832092
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-0.1790.045-0.023not observed
AG-0.1190.010-0.012not observed
AT-0.066-0.015-0.006not observed

Every possible base substitution at chr1:16367089, 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: AhR