Variant report
| Variant | nsv975634 |
|---|---|
| Chromosome Location | chr12:74445692-74450516 |
| allele | n/a |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:74447256..74448968-chr12:74473500..74476491,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs555015777 | chr12:74445701-74445702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184681773 | chr12:74445730-74445731 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs189598604 | chr12:74445742-74445743 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs146420629 | chr12:74445755-74445756 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371003874 | chr12:74445773-74445774 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs139891690 | chr12:74445775-74445776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs546075143 | chr12:74445776-74445777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs143248284 | chr12:74445819-74445820 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs531892569 | chr12:74445820-74445821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs542071577 | chr12:74445850-74445851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs560572046 | chr12:74445851-74445852 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs529606944 | chr12:74445963-74445964 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs546710739 | chr12:74446000-74446001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs566423702 | chr12:74446011-74446012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs532383814 | chr12:74446012-74446013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs180727906 | chr12:74446018-74446019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs569034951 | chr12:74446025-74446026 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs544935267 | chr12:74446028-74446029 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs554878431 | chr12:74446084-74446085 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs145372870 | chr12:74446100-74446101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs533916894 | chr12:74446119-74446120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs554286656 | chr12:74446132-74446133 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs113696828 | chr12:74446143-74446144 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs577255453 | chr12:74446170-74446171 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs557936170 | chr12:74449000-74449001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs80349730 | chr12:74449021-74449022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs74105140 | chr12:74449022-74449023 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs563229379 | chr12:74449048-74449049 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs74105141 | chr12:74449100-74449101 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs528312748 | chr12:74449169-74449170 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs543007725 | chr12:74449208-74449209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs559445664 | chr12:74449233-74449234 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs376225682 | chr12:74449261-74449262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs548035068 | chr12:74449354-74449355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs79308023 | chr12:74449371-74449372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs17113000 | chr12:74449383-74449384 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:69)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | 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 |
| 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 |
| Neurodevelopmental disorder | 22521361 | 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 |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | 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 |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:74444000-74446200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr12:74444200-74445800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr12:74444400-74445800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr12:74444400-74446200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 5 | chr12:74444600-74446200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 6 | chr12:74444600-74446200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr12:74445400-74446200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 8 | chr12:74449000-74449400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
