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chr8_143927072_G_C

chr8:143927072 · GRCh38GCrs782169513receptor_confirmed

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

Receptor variant-effect scores

PXR
-1.000LoF
FXR
-1.000LoF
AhR
-1.000LoF
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -1.000. Impact is at or beyond the receptor-specific p99 reference magnitude.

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

ClinVar
Uncertain significance · Epidermolysis bullosa simplex with nail dystrophy
phyloP conservation
6.65 · conserved
dbSNP
rs782169513
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-1.000-1.000-1.0000.0013%
GC-1.000-1.000-1.000not observed
GT-1.000-1.000-1.000not observed

Every possible base substitution at chr8:143927072, 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: FXR