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chr17_7241897_T_C

chr17:7241897 · GRCh38TCrs2071782284receptor_confirmed

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

Receptor variant-effect scores

PXR
0.180predicted occupancy increase
FXR
0.122predicted occupancy increase
AhR
0.176predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy increase at p99-scaled 0.180. 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
-1.14
dbSNP
rs2071782284
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-0.0070.0560.018not observed
TC0.1800.1220.176not observed
TG0.1430.1370.124not observed

Every possible base substitution at chr17:7241897, 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