Home / Variant

chr19_11365923_C_T

chr19:11365923 · GRCh38CTrs317914gnomAD AF 5.36e-2receptor_confirmed

Regulatory target RGL3 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
-0.196LoF
FXR
-0.307LoF
AhR
-0.590LoF
-1 (LoF)0+1 (GoF)

Strongest effect: AhR LoF at normalized -0.590. 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

GTEx liver eQTL
RGL3, slope 0.57, p 1.1e-5
phyloP conservation
0.67
gnomAD
AF 5.36e-2 · browser
dbSNP
rs317914
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-0.179-0.287-0.517not observed
CG-0.150-0.261-0.438not observed
CT-0.196-0.307-0.5905.4e-2

Every possible base substitution at chr19:11365923, 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, AhR. The highlighted column marks the approximate affected base within the response element. External browser: UCSC Genome Browser.