Variant report
Variant | nsv983951 |
---|---|
Chromosome Location | chr14:37838823-37844815 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs376097457 | chr14:37838826-37838827 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs373469932 | chr14:37838837-37838838 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs114892343 | chr14:37838838-37838839 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs145143265 | chr14:37838920-37838921 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs532875328 | chr14:37838932-37838933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs190221878 | chr14:37838965-37838966 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs566329690 | chr14:37838969-37838970 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs148688981 | chr14:37838974-37838975 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs555611743 | chr14:37838987-37838988 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs1955931 | chr14:37839006-37839007 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs142185782 | chr14:37839017-37839018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs111395940 | chr14:37839053-37839054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs59017121 | chr14:37839104-37839105 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs575104673 | chr14:37839131-37839132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs373392355 | chr14:37839158-37839159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs577363646 | chr14:37839226-37839227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs182404021 | chr14:37839318-37839319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs553544824 | chr14:37839373-37839374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs72671778 | chr14:37839384-37839385 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs151190432 | chr14:37839540-37839541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs562379157 | chr14:37839590-37839591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs531127694 | chr14:37839604-37839605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs146544085 | chr14:37839629-37839630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs79952240 | chr14:37839630-37839631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs112710062 | chr14:37839631-37839632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs201601500 | chr14:37839633-37839634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs184192183 | chr14:37839728-37839729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs1950519 | chr14:37839834-37839835 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs532814434 | chr14:37839842-37839843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs546271510 | chr14:37839948-37839949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs566255948 | chr14:37839975-37839976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs529024850 | chr14:37840003-37840004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs548918870 | chr14:37840014-37840015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs539881605 | chr14:37840234-37840235 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs370170789 | chr14:37840261-37840262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs561702130 | chr14:37840301-37840302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs537752719 | chr14:37840324-37840325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs71127214 | chr14:37840344-37840345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs530162475 | chr14:37840361-37840362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs141301864 | chr14:37840405-37840406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs570849532 | chr14:37840452-37840453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs189397903 | chr14:37840555-37840556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs374438286 | chr14:37840597-37840598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs553483298 | chr14:37840651-37840652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs147065600 | chr14:37840685-37840686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs542376029 | chr14:37840693-37840694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs555694367 | chr14:37840727-37840728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs180948406 | chr14:37840774-37840775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs377190102 | chr14:37840803-37840804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs544578180 | chr14:37840823-37840824 | Weak transcription | 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 |
Colorectal cancer | 16774939 | 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 |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Wilms tumour | 21544195 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Lung cancer | 18438408 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21785460 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 21298110 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 21858162 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cancer | 21183584 | CNVD |
Prostate cancer | 21147910 | CNVD |
Thyroid cancer | 19470727 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:37825600-37840200 | Weak transcription | Stomach Smooth Muscle | stomach |
2 | chr14:37831000-37852400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr14:37833400-37839600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
4 | chr14:37833400-37841800 | Weak transcription | Left Ventricle | heart |
5 | chr14:37833400-37844200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
6 | chr14:37833400-37845600 | Weak transcription | Esophagus | oesophagus |
7 | chr14:37833400-37848000 | Weak transcription | Aorta | Aorta |
8 | chr14:37833400-37867000 | Weak transcription | Ovary | ovary |
9 | chr14:37833600-37843800 | Weak transcription | Pancreas | Pancrea |
10 | chr14:37833600-37846200 | Weak transcription | Fetal Intestine Small | intestine |
11 | chr14:37833600-37853200 | Weak transcription | Fetal Lung | lung |
12 | chr14:37835000-37851600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
13 | chr14:37837600-37840000 | Weak transcription | NHEK | skin |
14 | chr14:37838600-37839000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
15 | chr14:37838600-37839000 | Enhancers | A549 | lung |
16 | chr14:37838600-37839000 | Enhancers | HepG2 | liver |
17 | chr14:37838800-37839000 | Enhancers | Stomach Mucosa | stomach |