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chr7_76106376_A_T

chr7:76106376 · GRCh38ATrs1188307146receptor_confirmed

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

Receptor variant-effect scores

PXR
0.122predicted occupancy increase
FXR
0.165predicted occupancy increase
AhR
0.088small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy increase at p99-scaled 0.165. 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
0.14
dbSNP
rs1188307146
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-0.096-0.119-0.124not observed
AG-0.111-0.091-0.165not observed
AT0.1220.1650.088not observed

Every possible base substitution at chr7:76106376, 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