Home / Variant

chr19_47618997_T_G

chr19:47618997 · GRCh38TGrs1228579337receptor_confirmed

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

Receptor variant-effect scores

PXR
-1.000predicted occupancy decrease
FXR
-0.992predicted occupancy decrease
AhR
-0.741predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy decrease 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

phyloP conservation
-0.42
dbSNP
rs1228579337
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-1.000-0.985-0.582not observed
TC-0.752-0.424-0.424not observed
TG-1.000-0.992-0.741not observed

Every possible base substitution at chr19:47618997, 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