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chrX_48505710_G_T

chrX:48505710 · GRCh38GTrs2061640216receptor_confirmed

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

Receptor variant-effect scores

PXR
0.489predicted occupancy increase
FXR
0.350predicted occupancy increase
AhR
0.453predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.489. 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
0.53
dbSNP
rs2061640216
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.030-0.0530.024not observed
GC0.9000.8730.865not observed
GT0.4890.3500.453not observed

Every possible base substitution at chrX:48505710, 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