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chr10_98396270_G_T

chr10:98396270 · GRCh38GTrs11598689gnomAD AF 23.1%receptor_confirmed

Regulatory target PYROXD2 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
0.275GoF
FXR
0.380GoF
AhR
0.485GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.485. 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
PYROXD2, slope 0.77, p 6.3e-27
phyloP conservation
-1.06
gnomAD
AF 23.1%
dbSNP
rs11598689
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA0.1050.1410.146not observed
GC0.002-0.008-0.012not observed
GT0.2750.3800.48523.1%

Every possible base substitution at chr10:98396270, 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