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chr1_150278481_T_G

chr1:150278481 · GRCh38TGrs1652841442receptor_confirmed

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

Receptor variant-effect scores

PXR
0.822predicted occupancy increase
FXR
1.000predicted occupancy increase
AhR
0.659predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy increase at p99-scaled 1.000. Impact is at or beyond the receptor-specific p99 reference magnitude.

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
0.21
dbSNP
rs1652841442
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA1.0001.0001.000not observed
TC-0.103-0.142-0.088not observed
TG0.8221.0000.659not observed

Every possible base substitution at chr1:150278481, 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