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chr4_76196093_C_T

chr4:76196093 · GRCh38CTrs113563427gnomAD AF 0.047%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.072small predicted occupancy change
FXR
-0.066small predicted occupancy change
AhR
-0.094small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: AhR small predicted occupancy change at p99-scaled -0.094. 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
-0.22
gnomAD
AF 0.047%
dbSNP
rs113563427
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.0690.1170.118not observed
CG0.4020.3600.506not observed
CT-0.072-0.066-0.0940.047%

Every possible base substitution at chr4:76196093, 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