Home / Variant

chr11_63609847_G_C

chr11:63609847 · GRCh38GCrs2003932gnomAD AF 10.3%receptor_confirmed

Regulatory target PLAAT3 is taken from a GTEx liver eQTL, not from distance. For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
-0.321LoF
FXR
-0.330LoF
AhR
-0.485LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.485. 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

GTEx liver eQTL
PLAAT3, slope -0.45, p 1.1e-16
phyloP conservation
0.85
gnomAD
AF 10.3%
dbSNP
rs2003932
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-0.286-0.278-0.456not observed
GC-0.321-0.330-0.48510.3%
GT-0.401-0.388-0.643not observed

Every possible base substitution at chr11:63609847, 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