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chr9_113377036_A_C

chr9:113377036 · GRCh38ACrs1249844520receptor_confirmed

Regulatory target HDHD3 is taken from a GTEx liver eQTL, not from distance. For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
-0.170predicted occupancy decrease
FXR
-0.180predicted occupancy decrease
AhR
-0.471predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.471. 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

GTEx liver eQTL
HDHD3, slope -0.20, p 9.6e-10
phyloP conservation
-1.61
dbSNP
rs1249844520
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-0.170-0.180-0.471not observed
AG0.0830.0840.106not observed
AT0.020-0.023-0.012not observed

Every possible base substitution at chr9:113377036, 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