Variant report
Variant | nsv611441 |
---|---|
Chromosome Location | chr8:63035856-63039968 |
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 | rs574915945 | chr8:63035913-63035914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs541924736 | chr8:63036008-63036009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs563315633 | chr8:63036017-63036018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs530828957 | chr8:63036025-63036026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs373898464 | chr8:63036027-63036028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs543297230 | chr8:63036112-63036113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs565216297 | chr8:63036298-63036299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs532206003 | chr8:63036380-63036381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs547611828 | chr8:63036432-63036433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs148323809 | chr8:63036479-63036480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs72666312 | chr8:63036544-63036545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs529766402 | chr8:63036547-63036548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs369364388 | chr8:63036559-63036560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs569632774 | chr8:63036603-63036604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs185858925 | chr8:63036624-63036625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs552572453 | chr8:63036651-63036652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs571169219 | chr8:63036668-63036669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs188772876 | chr8:63036691-63036692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs578046534 | chr8:63036700-63036701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs572459291 | chr8:63036742-63036743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs553490464 | chr8:63036777-63036778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs372494625 | chr8:63036819-63036820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs574957590 | chr8:63036824-63036825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs141489457 | chr8:63036835-63036836 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs557068421 | chr8:63036857-63036858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs543956872 | chr8:63036880-63036881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs575214906 | chr8:63036891-63036892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs545842480 | chr8:63036936-63036937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs565025669 | chr8:63037006-63037007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs147453108 | chr8:63037042-63037043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs540968672 | chr8:63037068-63037069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs191299587 | chr8:63037079-63037080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs541536743 | chr8:63037110-63037111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs116829675 | chr8:63037117-63037118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs57157132 | chr8:63037136-63037137 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs557444681 | chr8:63037139-63037140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs573890838 | chr8:63037224-63037225 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs542852829 | chr8:63037242-63037243 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs563400784 | chr8:63037258-63037259 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs530515553 | chr8:63037269-63037270 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs139901325 | chr8:63037292-63037293 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs570361599 | chr8:63037333-63037334 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs7013507 | chr8:63037358-63037359 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs147434711 | chr8:63037435-63037436 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs139620408 | chr8:63037438-63037439 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs535680850 | chr8:63037442-63037443 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs557035774 | chr8:63037471-63037472 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs149931396 | chr8:63037546-63037547 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs145030802 | chr8:63037560-63037561 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs183492600 | chr8:63037568-63037569 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | CNVD |
abnormal development | 18461090 | CNVD |
Cancer | 20164920 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Melanoma | 22183965 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Colorectal cancer | 21645411 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:63034000-63038200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
2 | chr8:63034200-63036200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr8:63034600-63037400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr8:63037200-63039600 | Enhancers | Brain Germinal Matrix | brain |
5 | chr8:63037400-63038000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr8:63038200-63038600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
7 | chr8:63039200-63039400 | Enhancers | Aorta | Aorta |