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chr17_144086_C_T

chr17:144086 · GRCh38CTrs2040001217gnomAD AF 2.06e-5ATAC_only

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

Receptor variant-effect scores

PXR
2,960Neutral
FXR
288Neutral
AhR
4,480GoF
− LoF0+ GoF

Strongest effect: AhR GoF at raw 4,480. Impact is moderate.

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

No external database record for this variant. It is a scored in silico saturation SNV.

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

Region confidence

In receptor peaks: none

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.