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chr1_1058882_G_T

chr1:1058882 · GRCh38GTrs1170754737receptor_confirmed

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

Receptor variant-effect scores

PXR
0.031Neutral
FXR
0.069Neutral
AhR
0.281GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.281. 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
-0.68
dbSNP
rs1170754737
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0390.0730.304not observed
GC0.0360.0630.363not observed
GT0.0310.0690.281not observed

Every possible base substitution at chr1:1058882, 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