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chr15_64841379_C_T

chr15:64841379 · GRCh38CTrs1011589755gnomAD AF 1.31e-5receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.482LoF
FXR
-0.054Neutral
AhR
-0.612LoF
-1 (LoF)0+1 (GoF)

Strongest effect: AhR LoF at normalized -0.612. Impact is high, in the upper range toward the 99th percentile.

ft_head_delta_norm = center bin sum of ALT minus REF on the receptor CHIP_TF head, normalized to the peak population 99th percentile and clipped to [−1, 1]. AhR is reported as exploratory, single replicate.

Cross-annotations

phyloP conservation
-0.07
gnomAD
AF 1.31e-5 · browser
dbSNP
rs1011589755
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA-0.548-0.099-0.798not observed
CG-0.298-0.020-0.2646.6e-6
CT-0.482-0.054-0.6121.3e-5

Every possible base substitution at chr15:64841379, each scored independently. 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

Multi receptor overlap: PXR

Binding motif

Logo for the strongest scoring receptor, AhR. The highlighted column marks the approximate affected base within the response element. External browser: UCSC Genome Browser.