Home / Variant
chr5_1516331_A_C
For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.
Receptor variant-effect scores
PXR
-0.599LoF
FXR
-0.393LoF
AhR
-1.000LoF
-1 LoF0+1 GoF
Strongest effect: AhR 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
No external database record for this variant. It is a scored in silico saturation SNV.
Mirrored from ClinVar, GTEx, GWAS Catalog, JASPAR/FIMO, gnomAD and phyloP. See Databases.
Region confidence
In receptor peaks: none