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chr17_82385140_C_T

chr17:82385140 · GRCh38CTrs9913918gnomAD AF 5.23e-1receptor_confirmed

Regulatory target OGFOD3 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
1.000GoF
FXR
1.000GoF
AhR
1.000GoF
-1 (LoF)0+1 (GoF)

Strongest effect: PXR GoF at normalized 1.000. Impact is at or above the receptor peak population 99th percentile, the top 1% or so.

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
OGFOD3, slope 0.30, p 5.3e-7
phyloP conservation
1.02
gnomAD
AF 5.23e-1 · browser
dbSNP
rs9913918
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-0.047-0.0280.062not observed
CG-0.243-0.103-0.079not observed
CT1.0001.0001.0005.2e-1

Every possible base substitution at chr17:82385140, 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: PXRFXR

Multi receptor overlap: PXR,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.