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chr11_124954054_G_A

chr11:124954054 · GRCh38GArs3809056gnomAD AF 18.5%receptor_confirmed

Regulatory target CCDC15-DT 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
0.050Neutral
FXR
0.010Neutral
AhR
0.000Neutral
-1 LoF0+1 GoF

Strongest effect: PXR Neutral at p99-scaled 0.050. 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
CCDC15-DT, slope 0.62, p 1.5e-15
phyloP conservation
-0.17
gnomAD
AF 18.5%
dbSNP
rs3809056
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.0500.0100.00018.5%
GC0.003-0.030-0.117<0.001%
GT0.0130.003-0.07010.7%

Every possible base substitution at chr11:124954054, 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