Variant report
Variant | nsv968828 |
---|---|
Chromosome Location | chr5:45015447-45025570 |
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 | rs543449479 | chr5:45021414-45021415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs370489775 | chr5:45021451-45021452 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs111496654 | chr5:45021513-45021514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs534746602 | chr5:45021514-45021515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs183404953 | chr5:45021516-45021517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs542364174 | chr5:45021543-45021544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs187814846 | chr5:45021553-45021554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs528678630 | chr5:45021581-45021582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs192386709 | chr5:45021587-45021588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs551643422 | chr5:45021626-45021627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs182214430 | chr5:45021629-45021630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs78623137 | chr5:45021634-45021635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs187721868 | chr5:45021665-45021666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs111347238 | chr5:45021750-45021751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs552985363 | chr5:45021777-45021778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs550995166 | chr5:45021778-45021779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs71610388 | chr5:45021804-45021805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs567554545 | chr5:45021814-45021815 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs370157104 | chr5:45021837-45021838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs536722363 | chr5:45021902-45021903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs546793820 | chr5:45021907-45021908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs192787319 | chr5:45021956-45021957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs184881271 | chr5:45021972-45021973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs558078579 | chr5:45021998-45021999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs578027315 | chr5:45021999-45022000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs190106554 | chr5:45022003-45022004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs556871018 | chr5:45022014-45022015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs142609091 | chr5:45022054-45022055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542674719 | chr5:45022092-45022093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs192105366 | chr5:45022142-45022143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs184414568 | chr5:45022240-45022241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs372383103 | chr5:45022241-45022242 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs373936709 | chr5:45022242-45022243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs545244713 | chr5:45022252-45022253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs554727655 | chr5:45022253-45022254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs565229598 | chr5:45022263-45022264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs531069952 | chr5:45022270-45022271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs112568684 | chr5:45022311-45022312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs75556319 | chr5:45022340-45022341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs530073307 | chr5:45022370-45022371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs189468527 | chr5:45022376-45022377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs148235268 | chr5:45022443-45022444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs141361358 | chr5:45022462-45022463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs376875903 | chr5:45022467-45022468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs548255132 | chr5:45022470-45022471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs200623554 | chr5:45022480-45022481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs371272116 | chr5:45022524-45022525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs551558762 | chr5:45022526-45022527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs545549638 | chr5:45022553-45022554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs571473154 | chr5:45022559-45022560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 16608533 | CNVD |
Autism | 22495311 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Lung cancer | 18438408 | CNVD |
Glioma | 20126413 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 22032731 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Breast cancer | 17133270 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Breast cancer | 17393978 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Intellectual disability | 21811512 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cancer | 21359685 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 21364760 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:45021400-45030200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr5:45024400-45024800 | Enhancers | Liver | Liver |