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chr7_76259584_A_G

chr7:76259584 · GRCh38AGrs1554608219receptor_confirmed

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

Receptor variant-effect scores

PXR
0.003Neutral
FXR
-0.004Neutral
AhR
0.067Neutral
-1 LoF0+1 GoF

Strongest effect: AhR Neutral at p99-scaled 0.067. 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
0.15
dbSNP
rs1554608219
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.000-0.0060.012not observed
AG0.003-0.0040.067not observed
AT-0.003-0.006-0.018not observed

Every possible base substitution at chr7:76259584, 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