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chr7_66148546_C_A

chr7:66148546 · GRCh38CArs1788365734receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.116predicted occupancy decrease
FXR
-0.241predicted occupancy decrease
AhR
-0.353predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.353. 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

phyloP conservation
-0.59
dbSNP
rs1788365734
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA-0.116-0.241-0.353not observed
CG-0.0070.0360.129not observed
CT-0.0310.013-0.141not observed

Every possible base substitution at chr7:66148546, 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