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chr10_4662011_G_T

chr10:4662011 · GRCh38GTrs996805245gnomAD AF 6.57e-6ATAC_only

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

Receptor variant-effect scores

PXR
-4,480LoF
FXR
-832Neutral
AhR
-2,944LoF
− LoF0+ GoF

Strongest effect: AhR LoF at raw -2,944. Impact is low, near neutral.

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.

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-4,736-1,216-3,5846.6e-6
GT-4,480-832-2,9446.6e-6

Every possible base substitution at chr10:4662011, 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: 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.