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chr15_40755400_G_A

chr15:40755400 · GRCh38GArs7174551gnomAD AF 49.2%receptor_confirmed

Regulatory target CCDC32 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
-0.161LoF
FXR
-0.010Neutral
AhR
-0.427LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.427. 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
CCDC32, slope 0.44, p 4.9e-14
phyloP conservation
-0.01
gnomAD
AF 49.2%
dbSNP
rs7174551
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.161-0.010-0.42749.2%
GC0.2490.4840.854not observed
GT-0.0520.2420.022not observed

Every possible base substitution at chr15:40755400, 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