Variant report
Variant | nsv824816 |
---|---|
Chromosome Location | chr9:1708103-1709003 |
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 | rs192985295 | chr9:1708107-1708108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs144086805 | chr9:1708118-1708119 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs541190043 | chr9:1708143-1708144 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs559963826 | chr9:1708153-1708154 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs34278734 | chr9:1708159-1708160 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs77876078 | chr9:1708172-1708173 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs146528700 | chr9:1708178-1708179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs185043384 | chr9:1708207-1708208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs190319001 | chr9:1708217-1708218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs530116604 | chr9:1708219-1708220 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs551319464 | chr9:1708232-1708233 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs141106844 | chr9:1708240-1708241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs527409018 | chr9:1708261-1708262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs563734204 | chr9:1708291-1708292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs567898197 | chr9:1708300-1708301 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs536800898 | chr9:1708301-1708302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs547360221 | chr9:1708315-1708316 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs373887621 | chr9:1708327-1708328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs538948903 | chr9:1708334-1708335 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs567127457 | chr9:1708340-1708341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs558939256 | chr9:1708355-1708356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs572106290 | chr9:1708360-1708361 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs10117154 | chr9:1708363-1708364 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs554605024 | chr9:1708366-1708367 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs577358244 | chr9:1708368-1708369 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs373525835 | chr9:1708376-1708377 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs144630110 | chr9:1708436-1708437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs562658636 | chr9:1708456-1708457 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs181920369 | chr9:1708461-1708462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs509905 | chr9:1708476-1708477 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs537183185 | chr9:1708489-1708490 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs371058346 | chr9:1708532-1708533 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs556757540 | chr9:1708550-1708551 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs527267919 | chr9:1708558-1708559 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs547522345 | chr9:1708560-1708561 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs567300888 | chr9:1708573-1708574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs184733583 | chr9:1708590-1708591 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs373468803 | chr9:1708598-1708599 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs530252471 | chr9:1708600-1708601 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ovarian cancer | 21720365 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Melanoma | 18172304 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Williams-beuren syndrome | 18553513 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Pilocytic astrocytoma | 18622384 | CNVD |
Pilomyxoid astrocytoma | 18622384 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
prenatal diagnosis | 20453657 | CNVD |
Gastric cancer | 16715143 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Disorders of sex development | 22290220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21183584 | CNVD |
Non-small cell lung cancer | 21952639 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Intellectual disability | 22102821 | CNVD |
abnormal development | 18461090 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Lung cancer | 16740712 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 16608533 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 16272173 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Cervical cancer | 21063398 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Biliary cancer | 19435499 | CNVD |
Gastric cancer | 21586687 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myopathy | 18421352 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Acute lymphoblastic leukemia | 18957548 | CNVD |
Myeloproliferative neoplasm | 17564968 | CNVD |
Malignant meningioma | 17937814 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chordoma | 18071362 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Developmental delay | 19490664 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Cancer | 20164919 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 20531469 | CNVD |
XY gonadal dysgenesis | 20685758 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Oral cancer | 21386901 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Breast cancer | 21785460 | CNVD |
Prostate cancer | 18632612 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 21858162 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Autism | 22495311 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:1707200-1708600 | Enhancers | HMEC | breast |
2 | chr9:1707600-1708400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |