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chr17_77307115_C_A

chr17:77307115 · GRCh38CArs1300040759gnomAD AF <0.001%receptor_confirmed

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

Receptor variant-effect scores

PXR
0.772predicted occupancy increase
FXR
0.576predicted occupancy increase
AhR
0.800predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase at p99-scaled 0.800. 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

FIMO motif overlap
Rxra · MA0512.2
phyloP conservation
1.07
gnomAD
AF <0.001%
dbSNP
rs1300040759
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.7720.5760.800<0.001%
CG-0.196-0.3550.247not observed
CT0.2230.1290.424not observed

Every possible base substitution at chr17:77307115, 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

Motif overlap

This base overlaps a significant FIMO hit for Rxra using JASPAR MA0512.2.

Motif overlap is an independent sequence annotation; the AetherXeno score comes from the receptor-finetuned sequence model and is not inferred from the motif alone. View the locus in UCSC Genome Browser or the JASPAR profile.