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chr16_66934220_T_A

chr16:66934220 · GRCh38TArs77470938receptor_confirmed

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

Receptor variant-effect scores

PXR
0.085Neutral
FXR
0.118GoF
AhR
0.337GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.337. 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
7.32 · conserved
dbSNP
rs77470938
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.0850.1180.337not observed
TC0.010-0.0430.169not observed
TG0.0560.0180.191not observed

Every possible base substitution at chr16:66934220, 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