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chr11_64166213_C_A

chr11:64166213 · GRCh38C → Ars1945843778receptor_confirmed

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

Receptor variant-effect scores

PXR
0.762predicted occupancy increase
FXR
0.170predicted occupancy increase
AhR
-0.129predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.762. 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
2.79 · conserved
dbSNP
rs1945843778↗
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
C→A0.7620.170-0.129not observed
C→G0.8490.287-0.153not observed
C→T0.7750.272-0.153not observed

Every possible base substitution at chr11:64166213, 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