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chr1_15934613_T_A

chr1:15934613 · GRCh38TArs1557762107receptor_confirmed

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

Receptor variant-effect scores

PXR
0.061Neutral
FXR
0.071Neutral
AhR
0.053Neutral
-1 (LoF)0+1 (GoF)

Strongest effect: FXR Neutral at normalized 0.071. Impact is low, near neutral.

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
-2.32
dbSNP
rs1557762107
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA0.0610.0710.053not observed
TC0.0410.0500.088not observed
TG-0.010-0.018-0.035not observed

Every possible base substitution at chr1:15934613, 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, FXR. The highlighted column marks the approximate affected base within the response element. External browser: UCSC Genome Browser.