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chr16_83899123_T_G

chr16:83899123 · GRCh38TGrs1906675919receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.017small predicted occupancy change
FXR
-0.039small predicted occupancy change
AhR
-0.271predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.271. 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
-2.29
dbSNP
rs1906675919
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-0.063-0.021-0.059not observed
TC-0.0370.037-0.162not observed
TG-0.017-0.039-0.271not observed

Every possible base substitution at chr16:83899123, 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