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chr15_39782828_A_C

chr15:39782828 · GRCh38ACrs1898327612receptor_confirmed

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

Receptor variant-effect scores

PXR
14,400GoF
FXR
5,024GoF
AhR
43,392GoF
− LoF0+ GoF

Strongest effect: AhR GoF at raw 43,392. Impact is at or above the receptor peak population 99th percentile, the top 1% or so.

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
3.57 · conserved
dbSNP
rs1898327612
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
AC14,4005,02443,392not observed
AG12,3523,36038,528not observed
AT14,1442,94441,856not observed

Every possible base substitution at chr15:39782828, 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: PXR

Multi receptor overlap: PXR

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.