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chr6_43267638_G_T

chr6:43267638 · GRCh38GTrs1449358441gnomAD AF 0.0026%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.055small predicted occupancy change
FXR
-0.112predicted occupancy decrease
AhR
-0.353predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.353. 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

phyloP conservation
-0.96
gnomAD
AF 0.0026%
dbSNP
rs1449358441
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0770.076-0.082not observed
GC0.0250.066-0.012not observed
GT-0.055-0.112-0.3530.0026%

Every possible base substitution at chr6:43267638, 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: FXRAhR

Multi receptor overlap: FXR,AhR