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chr7_76106365_A_C

chr7:76106365 · GRCh38ACreceptor_confirmed

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

Receptor variant-effect scores

PXR
-0.228LoF
FXR
-0.305LoF
AhR
-0.330LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.330. 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
FOXA1 · MA0148.5
phyloP conservation
0.20
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC-0.228-0.305-0.330not observed
AG-0.309-0.443-0.458not observed
AT-0.321-0.451-0.476not observed

Every possible base substitution at chr7:76106365, 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: AhR

Motif overlap

This base overlaps a significant FIMO hit for FOXA1 using JASPAR MA0148.5.

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.