Variant report
| Variant | rs73249197 |
|---|---|
| Chromosome Location | chr5:118098305-118098306 |
| allele | C/G |
| 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 | chr5:118097213..118099341-chr5:118103598..118106266,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs1110512 | 0.95[AFR][1000 genomes] |
| rs12110310 | 0.93[EUR][1000 genomes] |
| rs13152964 | 0.92[ASN][1000 genomes] |
| rs13171299 | 1.00[ASN][1000 genomes] |
| rs13174584 | 0.91[ASN][1000 genomes] |
| rs1559072 | 0.93[EUR][1000 genomes] |
| rs17144476 | 0.91[ASN][1000 genomes] |
| rs17144477 | 0.91[ASN][1000 genomes] |
| rs17144517 | 0.92[AFR][1000 genomes] |
| rs17144520 | 0.92[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17144523 | 0.92[AFR][1000 genomes] |
| rs17144526 | 0.92[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17144529 | 0.80[AFR][1000 genomes] |
| rs17144550 | 0.95[AFR][1000 genomes] |
| rs17144551 | 0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17144554 | 0.95[AFR][1000 genomes] |
| rs17144584 | 0.95[EUR][1000 genomes] |
| rs2193965 | 0.91[ASN][1000 genomes] |
| rs35740684 | 0.91[ASN][1000 genomes] |
| rs58999502 | 0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6871501 | 0.91[ASN][1000 genomes] |
| rs73789377 | 0.95[AFR][1000 genomes] |
| rs73789435 | 0.84[ASN][1000 genomes] |
| rs7727675 | 0.91[ASN][1000 genomes] |
| rs888710 | 0.95[AFR][1000 genomes] |
| rs888711 | 0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1032241 | chr5:117900051-118157400 | Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | nsv882767 | chr5:117931730-118385691 | Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 3 | nsv882768 | chr5:118088385-118133786 | Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| 4 | nsv882769 | chr5:118088385-118154368 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| 5 | nsv882770 | chr5:118089798-118133786 | Enhancers Flanking Active TSS Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:118097600-118098400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 2 | chr5:118097600-118098600 | Enhancers | Pancreas | Pancrea |
