Variant report
| Variant | nsv520435 |
|---|---|
| Chromosome Location | chr8:95598598-95608367 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:225)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:95605503..95607045-chr8:95651429..95653106,2 | MCF-7 | breast: | |
| 2 | chr8:95603957..95608238-chr8:95651708..95655027,4 | MCF-7 | breast: | |
| 3 | chr8:95604280..95605218-chr8:95654234..95655141,4 | MCF-7 | breast: | |
| 4 | chr8:95604279..95604876-chr8:95624972..95625755,2 | MCF-7 | breast: | |
| 5 | chr8:95603445..95604962-chr8:95650191..95651732,2 | MCF-7 | breast: | |
| 6 | chr8:95604274..95605200-chr8:95725698..95726286,2 | MCF-7 | breast: | |
| 7 | chr8:95604766..95607186-chr8:95653718..95656477,2 | MCF-7 | breast: | |
| 8 | chr8:95604246..95605617-chr8:95725348..95726635,8 | MCF-7 | breast: |
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-AC023632.1-2 | chr8:95606649-95606953 | NONHSAT127779 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254190 | TF binding region |
| ENSG00000254283 | TF binding region |
| ENSG00000199701 | chromatin interactions |
| ENSG00000104413 | chromatin interactions |
| ENSG00000261437 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370581909 | chr8:95598600-95598601 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs78409091 | chr8:95598603-95598604 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs375106458 | chr8:95598657-95598658 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556647746 | chr8:95598667-95598668 | Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs570069339 | chr8:95598685-95598686 | Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs539070603 | chr8:95598702-95598703 | Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs116112211 | chr8:95598709-95598710 | Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs368375436 | chr8:95598800-95598801 | Bivalent Enhancer | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs566653610 | chr8:95599588-95599589 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs74449093 | chr8:95599601-95599602 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs555386305 | chr8:95599668-95599669 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs376124478 | chr8:95599726-95599727 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs546476169 | chr8:95599753-95599754 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs3133606 | chr8:95599779-95599780 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs2381829 | chr8:95599806-95599807 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs3096602 | chr8:95599821-95599822 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs369410192 | chr8:95599910-95599911 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs371828467 | chr8:95599952-95599953 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs35759214 | chr8:95599963-95599964 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs76401481 | chr8:95600048-95600049 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs138194504 | chr8:95600049-95600050 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs571177690 | chr8:95600060-95600061 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs138845488 | chr8:95600701-95600702 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs567687207 | chr8:95601690-95601691 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 25 | rs536625190 | chr8:95601753-95601754 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 26 | rs556183117 | chr8:95601775-95601776 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 27 | rs4735300 | chr8:95601843-95601844 | Inactive region | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 28 | rs545258950 | chr8:95601844-95601845 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 29 | rs558830885 | chr8:95601881-95601882 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 30 | rs112552771 | chr8:95601920-95601921 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
| 31 | rs554204488 | chr8:95603792-95603793 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs575308543 | chr8:95603829-95603830 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs113491658 | chr8:95603850-95603851 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs547302220 | chr8:95603927-95603928 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs377334390 | chr8:95603957-95603958 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 36 | rs567743797 | chr8:95603958-95603959 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 37 | rs536385733 | chr8:95603959-95603960 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 38 | rs12335146 | chr8:95603994-95603995 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 39 | rs9773485 | chr8:95604020-95604021 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 40 | rs9771929 | chr8:95604047-95604048 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 41 | rs556250783 | chr8:95604048-95604049 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 42 | rs372994063 | chr8:95604065-95604066 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 43 | rs12335147 | chr8:95604066-95604067 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 44 | rs10429382 | chr8:95604070-95604071 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 45 | rs112712997 | chr8:95604077-95604078 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 46 | rs538672471 | chr8:95604100-95604101 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 47 | rs9772288 | chr8:95604120-95604121 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 48 | rs12334602 | chr8:95604131-95604132 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 49 | rs9772297 | chr8:95604192-95604193 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
| 50 | rs559172191 | chr8:95604195-95604196 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:113)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Epilepsy | 20502679 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| head and neck squamous cell carcinoma | 19451471 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Neuropsychiatric disorder | 20069037 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Gastric cancer | 22014070 | CNVD |
| Breast cancer | 22522925 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:95598600-95598800 | Bivalent Enhancer | H1 Derived Mesenchymal Stem Cells | ES cell derived |
