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chr17_75779564_A_T

chr17:75779564 · GRCh38ATrs1032767445receptor_confirmed

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

Receptor variant-effect scores

PXR
0.089Neutral
FXR
-0.045Neutral
AhR
-0.169LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.169. 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
-1.59
dbSNP
rs1032767445
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC-0.046-0.020-0.258not observed
AG-0.0100.030-0.079not observed
AT0.089-0.045-0.169not observed

Every possible base substitution at chr17:75779564, 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