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chr4_25665989_G_C

chr4:25665989 · GRCh38GCrs1714475173receptor_confirmed

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

Receptor variant-effect scores

PXR
0.030Neutral
FXR
0.005Neutral
AhR
0.031Neutral
-1 LoF0+1 GoF

Strongest effect: AhR Neutral at p99-scaled 0.031. 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
3.00 · conserved
dbSNP
rs1714475173
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0060.0040.000not observed
GC0.0300.0050.031not observed
GT-0.0050.0060.015<0.001%

Every possible base substitution at chr4:25665989, 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