Variant report
| Variant | nsv557721 |
|---|---|
| Chromosome Location | chr12:21294293-21315952 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2010668 | chr12:21294293-21294294 | Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs550371797 | chr12:21294305-21294306 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570206106 | chr12:21294315-21294316 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs529598947 | chr12:21294322-21294323 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11045784 | chr12:21294329-21294330 | Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs547045124 | chr12:21294407-21294408 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs373658115 | chr12:21294484-21294485 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201251518 | chr12:21294495-21294496 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs180888034 | chr12:21294506-21294507 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs185905373 | chr12:21294509-21294510 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs11557087 | chr12:21294536-21294537 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113635866 | chr12:21294538-21294539 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs376829525 | chr12:21294563-21294564 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs142087529 | chr12:21294574-21294575 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs190581845 | chr12:21294587-21294588 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs571639279 | chr12:21294593-21294594 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs112297015 | chr12:21294655-21294656 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs182369743 | chr12:21294661-21294662 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs74403531 | chr12:21294674-21294675 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs79400224 | chr12:21294702-21294703 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs542512234 | chr12:21294708-21294709 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs73244856 | chr12:21294710-21294711 | Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs74474044 | chr12:21294760-21294761 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs149689886 | chr12:21294784-21294785 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs4149021 | chr12:21294785-21294786 | Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs12812795 | chr12:21294795-21294796 | Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs78140527 | chr12:21294799-21294800 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs75924117 | chr12:21294800-21294801 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs529508870 | chr12:21294809-21294810 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs112377005 | chr12:21294813-21294814 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs549684623 | chr12:21294831-21294832 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs560105625 | chr12:21294833-21294834 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs12303784 | chr12:21294840-21294841 | Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 34 | rs373156227 | chr12:21294845-21294846 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs112828745 | chr12:21294860-21294861 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs186011720 | chr12:21294901-21294902 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs144500481 | chr12:21294902-21294903 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs112657203 | chr12:21294920-21294921 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs545205179 | chr12:21294923-21294924 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs564891975 | chr12:21294940-21294941 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs75478846 | chr12:21294993-21294994 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs578052101 | chr12:21295000-21295001 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs201192922 | chr12:21295003-21295004 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs114213427 | chr12:21295004-21295005 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs4149093 | chr12:21295005-21295006 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs398076474 | chr12:21295014-21295015 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs397801439 | chr12:21295015-21295016 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs202166020 | chr12:21295016-21295017 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs536075115 | chr12:21295031-21295032 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs552811839 | chr12:21295060-21295061 | Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:95)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Malignant germ cell tumour | 17285132 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | CNVD |
| 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 |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Autism | 22102821 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Melanoma | 17363583 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Breast cancer | 22048815 | CNVD |
| Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Heart disease | 21282601 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Gastric cancer | 19545448 | CNVD |
| Lung cancer | 20031968 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung adenocarcinoma | 19826477 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Lung cancer | 19826477 | CNVD |
| Non-small cell lung cancer | 19451690 | CNVD |
| Non-small cell lung cancer | 17504988 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Lung cancer | 19671679 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:21293800-21296600 | Genic enhancers | Liver | Liver |
| 2 | chr12:21296600-21297800 | Strong transcription | Liver | Liver |
| 3 | chr12:21297800-21298200 | Genic enhancers | Liver | Liver |
| 4 | chr12:21298200-21298400 | Weak transcription | Liver | Liver |
| 5 | chr12:21298400-21298600 | Enhancers | Liver | Liver |
| 6 | chr12:21298600-21299000 | Weak transcription | Liver | Liver |
| 7 | chr12:21299000-21299600 | Enhancers | Liver | Liver |
| 8 | chr12:21299600-21302400 | Weak transcription | Liver | Liver |
| 9 | chr12:21302400-21303000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 10 | chr12:21302400-21303400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr12:21302400-21306600 | Enhancers | Liver | Liver |
| 12 | chr12:21302600-21303400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 13 | chr12:21302600-21303400 | Enhancers | H1 Cell Line | embryonic stem cell |
| 14 | chr12:21302600-21303400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 15 | chr12:21306600-21307000 | Weak transcription | Liver | Liver |
| 16 | chr12:21307000-21308400 | Enhancers | Liver | Liver |
| 17 | chr12:21308400-21309000 | Flanking Active TSS | Liver | Liver |
| 18 | chr12:21308600-21309000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 19 | chr12:21308600-21309000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 20 | chr12:21309000-21310400 | Enhancers | Liver | Liver |
| 21 | chr12:21310400-21316600 | Weak transcription | Liver | Liver |
