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chr7_138726396_G_A

chr7:138726396 · GRCh38GArs550657151receptor_confirmed

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

Receptor variant-effect scores

PXR
0.028small predicted occupancy change
FXR
0.030small predicted occupancy change
AhR
0.099small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: AhR small predicted occupancy change at p99-scaled 0.099. 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
-0.54
dbSNP
rs550657151
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0280.0300.099not observed
GC-0.0010.0000.099not observed
GT0.0160.0180.116not observed

Every possible base substitution at chr7:138726396, 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