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chr11_67055168_A_T

chr11:67055168 · GRCh38ATrs17148051receptor_confirmed

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

Receptor variant-effect scores

PXR
0.087small predicted occupancy change
FXR
0.129predicted occupancy increase
AhR
0.424predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase at p99-scaled 0.424. 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
0.50
dbSNP
rs17148051
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.0850.0960.188not observed
AG0.0870.0790.1881.03%
AT0.0870.1290.424not observed

Every possible base substitution at chr11:67055168, 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