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chr19_38736287_T_C

chr19:38736287 · GRCh38TCrs1970138305receptor_confirmed

Regulatory target ENSG00000267892 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
-0.023small predicted occupancy change
FXR
-0.024small predicted occupancy change
AhR
-0.359predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy decrease at p99-scaled -0.359. 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

ClinVar
Benign · CAPN12-related disorder
GTEx liver eQTL
ENSG00000267892, slope -0.75, p 8.7e-10
phyloP conservation
1.71
dbSNP
rs1970138305
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-0.018-0.001-0.118not observed
TC-0.023-0.024-0.359not observed
TG-0.055-0.020-0.359not observed

Every possible base substitution at chr19:38736287, 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