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chr2_169031276_A_T

chr2:169031276 · GRCh38A → Trs1695861387receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.111predicted occupancy decrease
FXR
-0.185predicted occupancy decrease
AhR
0.041small predicted occupancy change
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.185. Impact is small 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
2.11 · conserved
dbSNP
rs1695861387↗
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
A→C0.0330.0380.135not observed
A→G-0.030-0.0330.059not observed
A→T-0.111-0.1850.041not observed

Every possible base substitution at chr2:169031276, 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: FXR