Home / Variant

chr15_39860439_T_C

chr15:39860439 · GRCh38TCrs571099058receptor_confirmed

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

Receptor variant-effect scores

PXR
-2,912Neutral
FXR
-3,008LoF
AhR
-7,616LoF
− LoF0+ GoF

Strongest effect: AhR LoF at raw -7,616. 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

phyloP conservation
0.63
dbSNP
rs571099058
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
TA-3,488-2,976-6,976not observed
TC-2,912-3,008-7,616not observed
TG-3,168-3,328-6,720not observed

Every possible base substitution at chr15:39860439, 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: 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.