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chr19_44500640_G_C

chr19:44500640 · GRCh38G → Crs1469342201receptor_confirmed
nearest gene · ZNF180 · 118 bp

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

Receptor variant-effect scores

PXR
0.218predicted occupancy increase
FXR
0.081small predicted occupancy change
AhR
-0.024small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.218. 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

phyloP conservation
-1.98
dbSNP
rs1469342201↗
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
G→A0.1560.1140.041not observed
G→C0.2180.081-0.024not observed
G→T0.1300.0530.018not observed

Every possible base substitution at chr19:44500640, 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: PXRAhR

Multi receptor overlap: PXR,AhR