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chr9_89604085_T_A

chr9:89604085 · GRCh38TArs3138490gnomAD AF 46.8%receptor_confirmed

Regulatory target ENSG00000285907 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
0.062Neutral
FXR
0.029Neutral
AhR
0.131GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.131. Impact is small 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
ENSG00000285907, slope -0.73, p 1.0e-29
GWAS Catalog
Chronotype
phyloP conservation
0.27
gnomAD
AF 46.8%
dbSNP
rs3138490
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.0620.0290.13146.8%
TC-0.132-0.003-0.405not observed
TG0.0820.0750.2880.0020%

Every possible base substitution at chr9:89604085, 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