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chr17_81804847_C_G

chr17:81804847 · GRCh38C → Grs2037918066receptor_confirmed
nearest gene · GCGR · within gene

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

Receptor variant-effect scores

PXR
4,288GoF
FXR
2,976GoF
AhR
12,288GoF
− LoF0+ GoF

Strongest effect: AhR GoF at raw 12,288. Impact is high, in the upper range toward the 99th percentile.

Raw ft_head_delta is the center bin sum of ALT minus REF on the receptor finetuned ChIP head, in unbounded model output units. A negative value means loss of receptor binding and a positive value means gain. AhR is exploratory, from a single replicate.

Cross-annotations

phyloP conservation
0.30
dbSNP
rs2037918066↗
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
C→A-3526086,656not observed
C→G4,2882,97612,288not observed
C→T641,0885,888not observed

Every possible base substitution at chr17:81804847, each scored independently and shown as raw model deltas. 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: PXRFXRAhR

Multi receptor overlap: PXR,FXR,AhR

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.