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chr18_63367557_T_G

chr18:63367557 · GRCh38TGgnomAD AF 10.0%receptor_confirmed

Regulatory target KDSR-DT 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
-0.210predicted occupancy decrease
FXR
0.259predicted occupancy increase
AhR
0.482predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase at p99-scaled 0.482. 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
KDSR-DT, slope 0.42, p 1.8e-10
phyloP conservation
0.36
gnomAD
AF 10.0%
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-0.1830.1520.224not observed
TC-0.0900.2210.435not observed
TG-0.2100.2590.48210.0%

Every possible base substitution at chr18:63367557, 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