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chr18_23902624_C_G

chr18:23902624 · GRCh38CGrs2081110475receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.086small predicted occupancy change
FXR
-0.164predicted occupancy decrease
AhR
-0.118predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.164. Impact is small 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
-0.03
dbSNP
rs2081110475
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA-0.061-0.091-0.094not observed
CG-0.086-0.164-0.118not observed
CT-0.086-0.089-0.106<0.001%

Every possible base substitution at chr18:23902624, 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