Variant report
| Variant | rs73400071 |
|---|---|
| Chromosome Location | chr7:101393294-101393295 |
| allele | A/C |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:101388011..101389588-chr7:101391930..101394914,2 | K562 | blood: | |
| 2 | chr7:101392445..101394259-chr7:101445144..101446903,2 | MCF-7 | breast: | |
| 3 | chr7:101391293..101393697-chr7:101400136..101402502,2 | K562 | blood: | |
| 4 | chr7:101384444..101389414-chr7:101389757..101394090,5 | MCF-7 | breast: | |
| 5 | chr7:101393105..101395222-chr7:101459410..101461900,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257923 | Chromatin interaction |
| rs_ID | r2[population] |
|---|---|
| rs10228981 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs10247290 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs10258318 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11975225 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11977362 | 0.87[ASN][1000 genomes] |
| rs11977381 | 0.87[ASN][1000 genomes] |
| rs11984246 | 0.87[ASN][1000 genomes] |
| rs17135758 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs28416662 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs28419515 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2906725 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2906726 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2906727 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2906728 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2906729 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2906730 | 1.00[ASN][1000 genomes] |
| rs2906731 | 1.00[ASN][1000 genomes] |
| rs2906736 | 0.96[ASN][1000 genomes] |
| rs2906737 | 0.89[ASN][1000 genomes] |
| rs2906738 | 0.93[ASN][1000 genomes] |
| rs2906739 | 0.93[ASN][1000 genomes] |
| rs2949324 | 0.93[ASN][1000 genomes] |
| rs2949325 | 0.93[ASN][1000 genomes] |
| rs2949326 | 0.93[ASN][1000 genomes] |
| rs2949327 | 0.93[ASN][1000 genomes] |
| rs2949329 | 0.96[ASN][1000 genomes] |
| rs2949332 | 1.00[ASN][1000 genomes] |
| rs2949333 | 1.00[ASN][1000 genomes] |
| rs2949334 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2949335 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2949336 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2949337 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2970475 | 0.93[ASN][1000 genomes] |
| rs2970476 | 0.93[ASN][1000 genomes] |
| rs2970481 | 1.00[ASN][1000 genomes] |
| rs2970484 | 1.00[ASN][1000 genomes] |
| rs2970485 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2970486 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2970487 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2970488 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2970490 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2970491 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2970492 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4354243 | 0.87[ASN][1000 genomes] |
| rs56024574 | 0.87[ASN][1000 genomes] |
| rs56257366 | 0.87[ASN][1000 genomes] |
| rs57730474 | 0.93[ASN][1000 genomes] |
| rs6975182 | 0.85[ASN][1000 genomes] |
| rs9691113 | 0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9691915 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv933653 | chr7:100701931-101515782 | Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 107 gene(s) | inside rSNPs | diseases |
| 2 | nsv1018544 | chr7:101225639-101424889 | Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv539045 | chr7:101225639-101424889 | Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv482758 | chr7:101231458-101395219 | Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 5 | nsv831079 | chr7:101273495-101466776 | Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
| 6 | nsv1021797 | chr7:101342353-101466957 | Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
| 7 | nsv539046 | chr7:101342353-101466957 | Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
| 8 | nsv1024319 | chr7:101368299-101668159 | Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
| 9 | nsv539047 | chr7:101368299-101668159 | Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:101387400-101397600 | Weak transcription | Right Atrium | heart |
| 2 | chr7:101390800-101397200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr7:101391000-101396600 | Weak transcription | Dnd41 | blood |
| 4 | chr7:101391200-101396600 | Weak transcription | GM12878-XiMat | blood |
| 5 | chr7:101391400-101397400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 6 | chr7:101393000-101397200 | Weak transcription | Fetal Thymus | thymus |
| 7 | chr7:101393200-101393400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |





