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chr7_66592382_A_G

chr7:66592382 · GRCh38AGrs1562931203receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.157LoF
FXR
-0.112LoF
AhR
0.012Neutral
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -0.157. 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
-0.92
dbSNP
rs1562931203
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-0.0340.0050.244not observed
AG-0.157-0.1120.012not observed
AT0.0190.0310.147not observed

Every possible base substitution at chr7:66592382, 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