Variant report
| Variant | rs483304 |
|---|---|
| Chromosome Location | chr13:37499658-37499659 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs12865199 | 0.81[AMR][1000 genomes] |
| rs1924419 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs1924420 | 0.91[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs1924422 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs2147169 | 0.81[EUR][1000 genomes] |
| rs2181787 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs2323165 | 0.81[EUR][1000 genomes] |
| rs4291799 | 0.81[EUR][1000 genomes] |
| rs568992 | 0.95[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs647421 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6563507 | 0.81[EUR][1000 genomes] |
| rs7321129 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs7334233 | 0.81[EUR][1000 genomes] |
| rs7982674 | 0.81[EUR][1000 genomes] |
| rs7991181 | 0.81[AMR][1000 genomes] |
| rs9315458 | 0.83[AMR][1000 genomes] |
| rs9315459 | 0.81[EUR][1000 genomes] |
| rs9531998 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9532001 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9532002 | 0.91[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9532004 | 0.91[AMR][1000 genomes] |
| rs9532005 | 0.81[EUR][1000 genomes] |
| rs9547707 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9547717 | 0.80[EUR][1000 genomes] |
| rs9576153 | 0.81[EUR][1000 genomes] |
| rs9576154 | 0.81[EUR][1000 genomes] |
| rs9594181 | 0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9603121 | 0.93[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv948975 | chr13:37281203-38280430 | Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
| 2 | nsv522336 | chr13:37305641-37584838 | Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 3 | nsv977167 | chr13:37498073-37499916 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs483304 | SUPT20H | cis | Whole Blood | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:37495600-37500000 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 2 | chr13:37498800-37499800 | Weak transcription | HepG2 | liver |
