Variant report
Variant | nsv522761 |
---|---|
Chromosome Location | chr9:9502055-9506433 |
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 | rs10977825 | chr9:9502055-9502056 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs546927689 | chr9:9502070-9502071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs143095002 | chr9:9502171-9502172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs573778215 | chr9:9502186-9502187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs10116327 | chr9:9502189-9502190 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs552634796 | chr9:9502197-9502198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs150661029 | chr9:9502202-9502203 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs544569638 | chr9:9502203-9502204 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs73405068 | chr9:9502232-9502233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs576611373 | chr9:9502249-9502250 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs139930228 | chr9:9502260-9502261 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs112937757 | chr9:9502270-9502271 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs118076441 | chr9:9502286-9502287 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs537248955 | chr9:9502306-9502307 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs541563339 | chr9:9502307-9502308 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs10125464 | chr9:9502309-9502310 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs183589934 | chr9:9502327-9502328 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs551761641 | chr9:9502329-9502330 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs115185413 | chr9:9502348-9502349 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs530761747 | chr9:9502349-9502350 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs149690022 | chr9:9502378-9502379 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs555512039 | chr9:9502396-9502397 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs187212036 | chr9:9502422-9502423 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs79857465 | chr9:9502477-9502478 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs145517530 | chr9:9502478-9502479 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs191974309 | chr9:9502528-9502529 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs570969647 | chr9:9502540-9502541 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs538250911 | chr9:9502556-9502557 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs556726910 | chr9:9502577-9502578 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs575167126 | chr9:9502608-9502609 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs112772973 | chr9:9502624-9502625 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs547021925 | chr9:9502644-9502645 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs574303307 | chr9:9502736-9502737 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs541359344 | chr9:9502759-9502760 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs541606408 | chr9:9502781-9502782 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs559899397 | chr9:9502789-9502790 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs182700641 | chr9:9502799-9502800 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs545483208 | chr9:9502814-9502815 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs116312990 | chr9:9502818-9502819 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs530920243 | chr9:9502848-9502849 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs549035422 | chr9:9502910-9502911 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs186703633 | chr9:9502936-9502937 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs528279459 | chr9:9503000-9503001 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs139425401 | chr9:9503005-9503006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs375638877 | chr9:9503010-9503011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs369496974 | chr9:9503016-9503017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs538385987 | chr9:9503045-9503046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs557000306 | chr9:9503055-9503056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs568786028 | chr9:9503065-9503066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs536212891 | chr9:9503087-9503088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
abnormal development | 18461090 | CNVD |
Disorders of sex development | 21048976 | 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 |
Oral squamous cell carcinoma | 17134496 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Glioblastoma multiforme | 21080181 | 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 |
Melanoma | 18172304 | 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 |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
XY gonadal dysgenesis | 20685758 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Oral cancer | 21386901 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21858162 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Autism | 22495311 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma | 19074898 | CNVD |
Malignant melanoma | 19074898 | CNVD |
Prostate cancer | 16573809 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Cancer | 20164920 | CNVD |
Lung cancer | 20668451 | CNVD |
Schizophrenia | 20838587 | CNVD |
Glioblastoma | 18772890 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 20858261 | CNVD |
Epilepsy | 20858261 | CNVD |
Mental retardation | 20858261 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 21764851 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioma | 17123091 | CNVD |
Lung cancer | 16773561 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Gastric cancer | 16891809 | CNVD |
Mental retardation | 17847001 | CNVD |
Cutaneous squamous cell carcinomas | 17420988 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pilocytic astrocytoma | 18670637 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Autism | 20531469 | CNVD |
Lung adenocarcinoma | 17982442 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:9498600-9502200 | Weak transcription | Fetal Lung | lung |
2 | chr9:9501400-9508800 | Weak transcription | Fetal Brain Male | brain |
3 | chr9:9502200-9503000 | Enhancers | Fetal Lung | lung |