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chr7_1556203_A_G

chr7:1556203 · GRCh38AGgnomAD AF 63.6%receptor_confirmed

Regulatory target INTS1 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
0.250predicted occupancy increase
FXR
0.272predicted occupancy increase
AhR
0.471predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: AhR predicted occupancy increase at p99-scaled 0.471. 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

GTEx liver eQTL
INTS1, slope -0.24, p 6.0e-7
phyloP conservation
-1.73
gnomAD
AF 63.6%
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.3330.1600.094not observed
AG0.2500.2720.47163.6%
AT0.2130.1620.259not observed

Every possible base substitution at chr7:1556203, 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