Home / Variant

chr1_26864735_G_C

chr1:26864735 · GRCh38GCrs1570683187receptor_confirmed

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

Receptor variant-effect scores

PXR
0.099Neutral
FXR
0.018Neutral
AhR
-0.047Neutral
-1 LoF0+1 GoF

Strongest effect: PXR Neutral at p99-scaled 0.099. 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
-0.38
dbSNP
rs1570683187
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0660.008-0.047not observed
GC0.0990.018-0.047not observed
GT0.089-0.010-0.082not observed

Every possible base substitution at chr1:26864735, 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: AhR