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chr10_52757799_C_G

chr10:52757799 · GRCh38CGrs2132684628receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.008Neutral
FXR
-0.023Neutral
AhR
0.044Neutral
-1 LoF0+1 GoF

Strongest effect: AhR Neutral at p99-scaled 0.044. 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
-0.46
dbSNP
rs2132684628
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-0.004-0.0030.023not observed
CG-0.008-0.0230.044not observed
CT-0.008-0.0050.006not observed

Every possible base substitution at chr10:52757799, 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