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chr11_679763_G_T

chr11:679763 · GRCh38GTrs753168686receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.154LoF
FXR
-0.277LoF
AhR
-0.275LoF
-1 LoF0+1 GoF

Strongest effect: FXR LoF at p99-scaled -0.277. Impact is moderate 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

FIMO motif overlap
Rxra · MA0512.2
phyloP conservation
4.67 · conserved
dbSNP
rs753168686
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-0.116-0.229-0.193not observed
GC-0.233-0.453-0.468not observed
GT-0.154-0.277-0.275not observed

Every possible base substitution at chr11:679763, 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

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.