Variant report
Variant | esv3504204 |
---|---|
Chromosome Location | chr6:74049231-74053029 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:74042687..74044679-chr6:74047911..74049640,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs556478428 | chr6:74049258-74049259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs559830048 | chr6:74049272-74049273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs375369359 | chr6:74049273-74049274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs191984774 | chr6:74049274-74049275 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs73754619 | chr6:74049284-74049285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs564947939 | chr6:74049289-74049290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs532193429 | chr6:74049311-74049312 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs367815960 | chr6:74049312-74049313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs503325 | chr6:74049313-74049314 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs568982419 | chr6:74049314-74049315 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs529703019 | chr6:74049336-74049337 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs548239619 | chr6:74049355-74049356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs371598530 | chr6:74049424-74049425 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs72947939 | chr6:74049491-74049492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs534516198 | chr6:74049558-74049559 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs575777179 | chr6:74049559-74049560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs200007097 | chr6:74049560-74049561 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs116569919 | chr6:74049567-74049568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs9359027 | chr6:74049571-74049572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs71573593 | chr6:74049573-74049574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs556380896 | chr6:74049628-74049629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs574919680 | chr6:74049644-74049645 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs540940771 | chr6:74049660-74049661 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs117787638 | chr6:74049689-74049690 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs76596614 | chr6:74049719-74049720 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs572773279 | chr6:74049743-74049744 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs550147540 | chr6:74049760-74049761 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540145882 | chr6:74049763-74049764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs528552323 | chr6:74049768-74049769 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs532202593 | chr6:74049775-74049776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs544433873 | chr6:74049776-74049777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs568482257 | chr6:74049839-74049840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs562426439 | chr6:74049859-74049860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs529788 | chr6:74049874-74049875 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs548177360 | chr6:74049926-74049927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs186026353 | chr6:74049944-74049945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs527952646 | chr6:74049973-74049974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs7453584 | chr6:74049974-74049975 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs190441191 | chr6:74050113-74050114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182637625 | chr6:74050164-74050165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs538048045 | chr6:74050237-74050238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs187085992 | chr6:74050277-74050278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs568440989 | chr6:74050330-74050331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs371473778 | chr6:74050358-74050359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs375136775 | chr6:74050359-74050360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs112394417 | chr6:74050366-74050367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs113342268 | chr6:74050370-74050371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs112394808 | chr6:74050399-74050400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs112583463 | chr6:74050405-74050406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs577101344 | chr6:74050410-74050411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastric cancer | 17908304 | 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 |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Ependymoma | 16718352 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Ovarian cancer | 17437010 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioma | 17123091 | CNVD |
Mental retardation | 17124404 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Breast cancer | 17133270 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Developmental delay | 21147756 | CNVD |
Glioma | 21046410 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Zellweger syndrome | 21572526 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:74049000-74050000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
2 | chr6:74049000-74050000 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
3 | chr6:74049000-74050000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
4 | chr6:74049200-74049600 | Enhancers | HMEC | breast |
5 | chr6:74049200-74049800 | Enhancers | GM12878-XiMat | blood |
6 | chr6:74049200-74050000 | Enhancers | A549 | lung |
7 | chr6:74049400-74049800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
8 | chr6:74050000-74053600 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
9 | chr6:74052600-74053200 | Enhancers | Fetal Lung | lung |