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chr10_99659336_G_C

chr10:99659336 · GRCh38GCrs2035443480receptor_confirmed

For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
-0.270LoF
FXR
-0.159LoF
AhR
-0.327LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.327. 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

phyloP conservation
0.85
dbSNP
rs2035443480
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.250-0.156-0.3270.0013%
GC-0.270-0.159-0.327not observed
GT-0.315-0.189-0.304not observed

Every possible base substitution at chr10:99659336, 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