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chr10_30542525_G_A

chr10:30542525 · GRCh38GArs906231gnomAD AF 2.36e-1receptor_confirmed

Regulatory target MAP3K8 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
-0.450LoF
FXR
-0.448LoF
AhR
-0.392LoF
-1 (LoF)0+1 (GoF)

Strongest effect: PXR LoF at normalized -0.450. Impact is moderate.

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

GTEx liver eQTL
MAP3K8, slope -0.17, p 3.5e-5
phyloP conservation
-3.95
gnomAD
AF 2.36e-1 · browser
dbSNP
rs906231
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.450-0.448-0.3922.4e-1
GC-0.924-0.927-0.725not observed
GT-1.000-1.000-0.801not observed

Every possible base substitution at chr10:30542525, 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: FXR

Multi receptor overlap: FXR

Binding motif

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