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chr16_21512718_C_T

chr16:21512718 · GRCh38C → Trs1457158544gnomAD AF <0.001%receptor_confirmed
nearest gene · RRN3 · within gene

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

Receptor variant-effect scores

PXR
-1.000LoF
FXR
-1.000LoF
AhR
-0.927LoF
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -1.000. Impact is at or beyond the receptor-specific p99 reference magnitude.

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
1.67
gnomAD
AF <0.001%↗
dbSNP
rs1457158544↗
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
C→A-1.000-1.000-1.000not observed
C→G-1.000-1.000-1.000not observed
C→T-1.000-1.000-0.927<0.001%

Every possible base substitution at chr16:21512718, 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: FXRAhR

Multi receptor overlap: FXR,AhR