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chr4_88107623_A_G

chr4:88107623 · GRCh38AGrs2054576gnomAD AF 8.06%receptor_confirmed

Regulatory target ABCG2 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
0.376GoF
FXR
0.348GoF
AhR
0.244GoF
-1 LoF0+1 GoF

Strongest effect: PXR GoF at p99-scaled 0.376. 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
ABCG2, slope 0.27, p 8.2e-6
GWAS Catalog
Hyperuricemia
phyloP conservation
-1.36
gnomAD
AF 8.06%
dbSNP
rs2054576
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.7450.6390.470not observed
AG0.3760.3480.2448.06%
AT0.4720.3900.311not observed

Every possible base substitution at chr4:88107623, 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: PXRFXR

Multi receptor overlap: PXR,FXR