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chr14_73472141_T_C

chr14:73472141 · GRCh38TCrs1334109978gnomAD AF 0.0013%receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.068small predicted occupancy change
FXR
0.015small predicted occupancy change
AhR
0.006small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: PXR small predicted occupancy change at p99-scaled -0.068. 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
-0.49
gnomAD
AF 0.0013%
dbSNP
rs1334109978
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-0.0620.003-0.029not observed
TC-0.0680.0150.0060.0013%
TG0.0320.0030.082not observed

Every possible base substitution at chr14:73472141, 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