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chr15_85344970_C_T

chr15:85344970 · GRCh38CTrs2083221124receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.605LoF
FXR
-0.703LoF
AhR
-0.713LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.713. 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
0.41
dbSNP
rs2083221124
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-0.036-0.040-0.022not observed
CG-0.044-0.096-0.011not observed
CT-0.605-0.703-0.713not observed

Every possible base substitution at chr15:85344970, 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