Home / Variant

chr3_98786532_A_G

chr3:98786532 · GRCh38AGrs9883516gnomAD AF 3.75e-1receptor_confirmed

Regulatory target PDLIM1P4 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
-0.096Neutral
FXR
-0.229LoF
AhR
-0.012Neutral
-1 (LoF)0+1 (GoF)

Strongest effect: FXR LoF at normalized -0.229. 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
PDLIM1P4, slope 0.22, p 3.7e-5
phyloP conservation
0.26
gnomAD
AF 3.75e-1 · browser
dbSNP
rs9883516
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC0.1850.1740.214not observed
AG-0.096-0.229-0.0123.8e-1
AT-0.077-0.122-0.049not observed

Every possible base substitution at chr3:98786532, 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, FXR. The highlighted column marks the approximate affected base within the response element. External browser: UCSC Genome Browser.