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chr16_75148717_C_G

chr16:75148717 · GRCh38CGrs1467495927receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.100small predicted occupancy change
FXR
-0.001small predicted occupancy change
AhR
-0.341predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.341. 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
-0.11
dbSNP
rs1467495927
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.0100.034-0.071not observed
CG-0.100-0.001-0.341not observed
CT-0.0300.000-0.0820.0013%

Every possible base substitution at chr16:75148717, 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