Variant report
| Variant | rs2786643 |
|---|---|
| Chromosome Location | chr13:38486477-38486478 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr13:38485175..38486789-chr13:38490324..38493116,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs1093510 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1337085 | 0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13378806 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17209704 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17210436 | 0.82[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1953688 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2068890 | 0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2786642 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6563575 | 0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs73170487 | 0.82[EUR][1000 genomes] |
| rs73170494 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7325031 | 0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs73466440 | 0.86[ASN][1000 genomes] |
| rs7992568 | 1.00[JPT][hapmap] |
| rs817735 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs817736 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs817737 | 0.98[EUR][1000 genomes] |
| rs846414 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs846415 | 0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs863661 | 0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9315527 | 0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9603289 | 0.86[ASN][1000 genomes] |
| rs961158 | 0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv915901 | chr13:38199035-39032633 | Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv899996 | chr13:38459224-38577056 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv899997 | chr13:38480878-38518459 | Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 4 | nsv899998 | chr13:38480878-38582178 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:38484200-38488200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr13:38484200-38494200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
