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chr3_74409097_G_C

chr3:74409097 · GRCh38GCrs553157230gnomAD AF 0.030%receptor_confirmed

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

Receptor variant-effect scores

PXR
0.082Neutral
FXR
0.060Neutral
AhR
0.085Neutral
-1 LoF0+1 GoF

Strongest effect: AhR Neutral at p99-scaled 0.085. 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
-0.07
gnomAD
AF 0.030%
dbSNP
rs553157230
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.004-0.0100.011not observed
GC0.0820.0600.0850.030%
GT-0.001-0.0130.014not observed

Every possible base substitution at chr3:74409097, 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