Variant report
| Variant | nsv560325 |
|---|---|
| Chromosome Location | chr12:117087267-117087956 |
| allele | n/a |
| 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 |
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Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2132494 | chr12:117087296-117087297 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs372168978 | chr12:117087303-117087304 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2132495 | chr12:117087335-117087336 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs144715701 | chr12:117087360-117087361 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11068122 | chr12:117087376-117087377 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs574457339 | chr12:117087388-117087389 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs563429434 | chr12:117087389-117087390 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs543469872 | chr12:117087423-117087424 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs74844799 | chr12:117087471-117087472 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147832109 | chr12:117087514-117087515 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs558730666 | chr12:117087523-117087524 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs552335147 | chr12:117087592-117087593 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372581807 | chr12:117087596-117087597 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs559657109 | chr12:117087612-117087613 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs368274385 | chr12:117087630-117087631 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs528901117 | chr12:117087636-117087637 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs528756040 | chr12:117087650-117087651 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs61685862 | chr12:117087663-117087664 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs60847250 | chr12:117087674-117087675 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs375351665 | chr12:117087679-117087680 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs537172459 | chr12:117087690-117087691 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs551085329 | chr12:117087692-117087693 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs570843874 | chr12:117087694-117087695 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs538877968 | chr12:117087696-117087697 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs2088269 | chr12:117087697-117087698 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs534424931 | chr12:117087700-117087701 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs566972902 | chr12:117087755-117087756 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs534875580 | chr12:117087757-117087758 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs554283523 | chr12:117087758-117087759 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs182761892 | chr12:117087760-117087761 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs543028985 | chr12:117087762-117087763 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs563431171 | chr12:117087789-117087790 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs114485801 | chr12:117087828-117087829 | Weak transcription Bivalent/Poised TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs546031254 | chr12:117087856-117087857 | Weak transcription Bivalent/Poised TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs559471971 | chr12:117087881-117087882 | Weak transcription Bivalent/Poised TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs141319890 | chr12:117087895-117087896 | Weak transcription Bivalent/Poised TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs571837544 | chr12:117087915-117087916 | Weak transcription Bivalent/Poised TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs542483983 | chr12:117087927-117087928 | Weak transcription Bivalent/Poised TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Cancer | 16751803 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Cryptorchidism | 21048976 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| mental retardation | 16760730 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung adenocarcinoma | 21045234 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:117080600-117088000 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr12:117080600-117088000 | Weak transcription | Adipose Nuclei | Adipose |
| 3 | chr12:117083200-117088200 | Weak transcription | Right Atrium | heart |
| 4 | chr12:117084000-117088000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr12:117084000-117088400 | Weak transcription | Lung | lung |
| 6 | chr12:117084000-117093200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 7 | chr12:117084200-117088000 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 8 | chr12:117084600-117088200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 9 | chr12:117085200-117087400 | Enhancers | Fetal Thymus | thymus |
| 10 | chr12:117086400-117087800 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
| 11 | chr12:117086600-117088000 | Weak transcription | Pancreas | Pancrea |
| 12 | chr12:117086600-117088000 | Weak transcription | Dnd41 | blood |
| 13 | chr12:117086800-117088200 | Weak transcription | Thymus | Thymus |
| 14 | chr12:117087400-117087800 | Weak transcription | Fetal Thymus | thymus |
| 15 | chr12:117087800-117088000 | Bivalent/Poised TSS | IMR90 fetal lung fibroblasts Cell Line | lung |
| 16 | chr12:117087800-117088600 | Enhancers | Liver | Liver |
| 17 | chr12:117087800-117089400 | Enhancers | Fetal Thymus | thymus |
