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chr3_155870816_T_A

chr3:155870816 · GRCh38TAgnomAD AF 2.31%receptor_confirmed

Regulatory target ENSG00000286585 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
-0.068small predicted occupancy change
FXR
-0.145predicted occupancy decrease
AhR
-0.753predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.753. 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

GTEx liver eQTL
ENSG00000286585, slope -0.83, p 1.0e-5
phyloP conservation
-0.37
gnomAD
AF 2.31%
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-0.068-0.145-0.7532.31%
TC-0.151-0.062-0.800not observed
TG0.000-0.084-0.424not observed

Every possible base substitution at chr3:155870816, 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