Home / Variant

chr17_64150455_T_G

chr17:64150455 · GRCh38TGrs2030294912gnomAD AF 7.70%receptor_confirmed

Regulatory target TEX2 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
-0.890predicted occupancy decrease
FXR
-1.000predicted occupancy decrease
AhR
-0.741predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease 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

GTEx liver eQTL
TEX2, slope 0.25, p 6.2e-6
phyloP conservation
-0.19
gnomAD
AF 7.70%
dbSNP
rs2030294912
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-0.428-0.579-0.329not observed
TC-0.175-0.261-0.071not observed
TG-0.890-1.000-0.7417.70%

Every possible base substitution at chr17:64150455, 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