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chr19_660377_A_C

chr19:660377 · GRCh38ACrs2144777591receptor_confirmed

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

Receptor variant-effect scores

PXR
0.293predicted occupancy increase
FXR
0.190predicted occupancy increase
AhR
0.329predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase at p99-scaled 0.329. 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
0.63
dbSNP
rs2144777591
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.2930.1900.329not observed
AG0.0930.0380.129not observed
AT0.0470.0510.047not observed

Every possible base substitution at chr19:660377, 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