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chr4_69020448_A_T

chr4:69020448 · GRCh38ATrs777992239receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.333predicted occupancy decrease
FXR
-0.454predicted occupancy decrease
AhR
-0.200predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.454. 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
0.68
dbSNP
rs777992239
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-0.136-0.183-0.107not observed
AG-0.399-0.546-0.224not observed
AT-0.333-0.454-0.200not observed

Every possible base substitution at chr4:69020448, 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