Variant report
Variant | esv3395454 |
---|---|
Chromosome Location | chr14:83932805-83934786 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs191097175 | chr14:83932830-83932831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs550048329 | chr14:83932940-83932941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs565355275 | chr14:83932944-83932945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs558300233 | chr14:83932964-83932965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs150542944 | chr14:83932976-83932977 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs557192315 | chr14:83932996-83932997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs547826260 | chr14:83933043-83933044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs566050423 | chr14:83933065-83933066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs533846134 | chr14:83933135-83933136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs117474820 | chr14:83933180-83933181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs567386728 | chr14:83933200-83933201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs368159353 | chr14:83933207-83933208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs182107483 | chr14:83933216-83933217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs551922064 | chr14:83933258-83933259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs538039788 | chr14:83933259-83933260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs138379925 | chr14:83933260-83933261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs577305880 | chr14:83933321-83933322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs372264401 | chr14:83933378-83933379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs150012073 | chr14:83933389-83933390 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs553374646 | chr14:83933390-83933391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs571962199 | chr14:83933401-83933402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs375227185 | chr14:83933434-83933435 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs542961468 | chr14:83933518-83933519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs543047825 | chr14:83933539-83933540 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs149255322 | chr14:83933608-83933609 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs185479111 | chr14:83933617-83933618 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs116679618 | chr14:83933625-83933626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs375165838 | chr14:83933654-83933655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs368508847 | chr14:83933663-83933664 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs565443351 | chr14:83933685-83933686 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs532674459 | chr14:83933692-83933693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs371120111 | chr14:83933728-83933729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs561226319 | chr14:83933778-83933779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs144818037 | chr14:83933825-83933826 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs77667481 | chr14:83933834-83933835 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs189943999 | chr14:83933929-83933930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs183026633 | chr14:83933955-83933956 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs376788867 | chr14:83933979-83933980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs369810910 | chr14:83934057-83934058 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs144599335 | chr14:83934087-83934088 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs111701545 | chr14:83934130-83934131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs567532411 | chr14:83934153-83934154 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs537681495 | chr14:83934194-83934195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs77312887 | chr14:83934235-83934236 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs116539944 | chr14:83934287-83934288 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs571082569 | chr14:83934299-83934300 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs371260188 | chr14:83934312-83934313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs538351208 | chr14:83934335-83934336 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs555991679 | chr14:83934340-83934341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs553413258 | chr14:83934379-83934380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal cancer | 21851588 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 17899364 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
cataract | 16735990 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 16608533 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioblastoma | 21080181 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cancer | 20164920 | CNVD |
Breast cancer | 21364760 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:83932800-83933400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
2 | chr14:83933400-83935000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
3 | chr14:83934200-83934600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
4 | chr14:83934200-83934600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |