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chr9_17134954_C_T

chr9:17134954 · GRCh38CTrs368815458receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.213predicted occupancy decrease
FXR
0.241predicted occupancy increase
AhR
0.188predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy increase at p99-scaled 0.241. 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
1.39
dbSNP
rs368815458
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-0.1910.020-0.035<0.001%
CG-0.0350.0660.788not observed
CT-0.2130.2410.188not observed

Every possible base substitution at chr9:17134954, 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: PXR