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chr7_150323437_C_T

chr7:150323437 · GRCh38CTrs3735173receptor_confirmed

Regulatory target LRRC61 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
0.066Neutral
FXR
0.083Neutral
AhR
0.497GoF
-1 LoF0+1 GoF

Strongest effect: AhR GoF at p99-scaled 0.497. 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
LRRC61, slope 0.95, p 4.7e-51
phyloP conservation
-0.82
dbSNP
rs3735173
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-0.169-0.1630.039not observed
CG-0.169-0.249-0.431not observed
CT0.0660.0830.497not observed

Every possible base substitution at chr7:150323437, 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