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chr10_5571670_T_C

chr10:5571670 · GRCh38TCrs2131405983receptor_confirmed

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

Receptor variant-effect scores

PXR
0.444GoF
FXR
0.543GoF
AhR
0.678GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.678. Impact is large relative to 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
0.47
dbSNP
rs2131405983
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.6770.8510.977not observed
TC0.4440.5430.678not observed
TG0.6290.7830.906not observed

Every possible base substitution at chr10:5571670, 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