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chr17_81804892_T_G

chr17:81804892 · GRCh38TGrs2143081959receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.134predicted occupancy decrease
FXR
-0.381predicted occupancy decrease
AhR
-0.306predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy decrease at p99-scaled -0.381. Impact is moderate on the receptor-specific p99 scale.

The p99-scaled score divides the raw delta by the receptor-specific 99th percentile of |delta| in the reference peak population, then clips to −1 to 1. It is a comparable effect scale, not a percentile rank. AhR is exploratory, from a single replicate.

Cross-annotations

FIMO motif overlap
NR1I2 · MA1533.2
phyloP conservation
-1.45
dbSNP
rs2143081959
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-0.099-0.297-0.106not observed
TC-0.105-0.310-0.224not observed
TG-0.134-0.381-0.306not observed

Every possible base substitution at chr17:81804892, each scored independently and shown as p99-scaled scores. 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

Motif overlap

This base overlaps a significant FIMO hit for NR1I2 using JASPAR MA1533.2.

Motif overlap is an independent sequence annotation; the AetherXeno score comes from the receptor-finetuned sequence model and is not inferred from the motif alone. View the locus in UCSC Genome Browser or the JASPAR profile.