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chr4_38787903_C_T

chr4:38787903 · GRCh38CTgnomAD AF 31.9%receptor_confirmed

Regulatory target TLR1 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
-0.817predicted occupancy decrease
FXR
-0.860predicted occupancy decrease
AhR
-0.709predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.860. Impact is large relative to 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
TLR1, slope -0.35, p 2.6e-11
phyloP conservation
0.72
gnomAD
AF 31.9%
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA-1.000-1.000-0.947not observed
CG-0.959-0.995-0.835not observed
CT-0.817-0.860-0.70931.9%

Every possible base substitution at chr4:38787903, 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: PXR