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chr3_14141910_T_C

chr3:14141910 · GRCh38TCrs1043943gnomAD AF 65.2%receptor_confirmed

Regulatory target XPC is taken from a GTEx liver eQTL, not from distance. For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
-0.503LoF
FXR
-0.743LoF
AhR
-0.879LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.879. 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

ClinVar
Benign/Likely benign
GTEx liver eQTL
XPC, slope 0.28, p 6.5e-13
phyloP conservation
-1.33
gnomAD
AF 65.2%
dbSNP
rs1043943
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-0.501-0.732-0.898not observed
TC-0.503-0.743-0.87965.2%
TG-0.497-0.732-0.843not observed

Every possible base substitution at chr3:14141910, 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