Variant report
Variant | esv3362176 |
---|---|
Chromosome Location | chr9:1640048-1640536 |
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 | rs559588470 | chr9:1640090-1640091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs71507932 | chr9:1640107-1640108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs771890 | chr9:1640109-1640110 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs562048341 | chr9:1640117-1640118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs1323227 | chr9:1640127-1640128 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs148938714 | chr9:1640129-1640130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs550178197 | chr9:1640141-1640142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs559322114 | chr9:1640182-1640183 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs563699235 | chr9:1640185-1640186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs370817882 | chr9:1640224-1640225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs148682598 | chr9:1640232-1640233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs16932046 | chr9:1640238-1640239 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs142069299 | chr9:1640254-1640255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs536082872 | chr9:1640260-1640261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs539923815 | chr9:1640266-1640267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs811301 | chr9:1640283-1640284 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs573044151 | chr9:1640288-1640289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs146661046 | chr9:1640294-1640295 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs538503587 | chr9:1640298-1640299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs367986280 | chr9:1640300-1640301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs139229275 | chr9:1640305-1640306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs377654914 | chr9:1640312-1640313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs143594412 | chr9:1640339-1640340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs12685569 | chr9:1640348-1640349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs578034731 | chr9:1640354-1640355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs75782707 | chr9:1640364-1640365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs542294170 | chr9:1640380-1640381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs75388877 | chr9:1640383-1640384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs574033440 | chr9:1640395-1640396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs193232640 | chr9:1640400-1640401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs555237925 | chr9:1640416-1640417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs575504947 | chr9:1640432-1640433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs144039898 | chr9:1640521-1640522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs374813583 | chr9:1640522-1640523 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs532808205 | chr9:1640533-1640534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs59103022 | chr9:1640534-1640535 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 | chr9:1631800-1659000 | Weak transcription | Adipose Nuclei | Adipose |