Variant report
Variant | nsv8427 |
---|---|
Chromosome Location | chr9:22668170-22671247 |
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 | rs148380096 | chr9:22668178-22668179 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs563666941 | chr9:22668185-22668186 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs576281035 | chr9:22668251-22668252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs576976122 | chr9:22668260-22668261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs141552344 | chr9:22668267-22668268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs180972389 | chr9:22668287-22668288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs564749537 | chr9:22668299-22668300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541235632 | chr9:22668315-22668316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs544449661 | chr9:22668316-22668317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs200392907 | chr9:22668341-22668342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs540775098 | chr9:22668347-22668348 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs150509934 | chr9:22668363-22668364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs529673407 | chr9:22668366-22668367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs549524634 | chr9:22668377-22668378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs569602477 | chr9:22668508-22668509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs187130280 | chr9:22668610-22668611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs139486455 | chr9:22668633-22668634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs552795931 | chr9:22668634-22668635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs115576273 | chr9:22668659-22668660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs535225674 | chr9:22668678-22668679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs192414418 | chr9:22668705-22668706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs75290736 | chr9:22668709-22668710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs370268455 | chr9:22668720-22668721 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs374003687 | chr9:22668756-22668757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs559848214 | chr9:22668786-22668787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs548889429 | chr9:22668813-22668814 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs376464613 | chr9:22668848-22668849 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs557081779 | chr9:22668907-22668908 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs181710129 | chr9:22668915-22668916 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs552526480 | chr9:22668920-22668921 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs545017346 | chr9:22668932-22668933 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs570721149 | chr9:22668933-22668934 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs571939394 | chr9:22668945-22668946 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs537969318 | chr9:22668955-22668956 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs540809821 | chr9:22668965-22668966 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs143420834 | chr9:22668982-22668983 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs12551699 | chr9:22668988-22668989 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs529771142 | chr9:22668989-22668990 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs543455637 | chr9:22668994-22668995 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs563147352 | chr9:22669032-22669033 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs375262558 | chr9:22669064-22669065 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs532124130 | chr9:22669087-22669088 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs374682154 | chr9:22669098-22669099 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs142693573 | chr9:22669111-22669112 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs2210865 | chr9:22669166-22669167 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs570969317 | chr9:22669197-22669198 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs147387951 | chr9:22669244-22669245 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs112494606 | chr9:22669251-22669252 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs573395072 | chr9:22669252-22669253 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs537161913 | chr9:22669366-22669367 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | 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 |
Oral squamous cell carcinoma | 17134496 | 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 |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Cancer | 20164919 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Lung cancer | 18438408 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Autism | 22495311 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Developmental delay | 21147756 | CNVD |
Pilocytic astrocytoma | 18670637 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Melanoma | 22183965 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Cancer | 22183965 | CNVD |
Glioblastoma multiforme | 21569311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Glioblastoma multiforme | 22291905 | CNVD |
Lung cancer | 21911935 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
head and neck squamous cell carcinoma | 21798897 | CNVD |
Cancer | 21253487 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Glioma | 17123091 | CNVD |
Mental retardation | 17124404 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Acute lymphoblastic leukemia | 18768390 | CNVD |
Leukemia | 19602459 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Leukemia | 18688285 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
Coronary Disease | 20032323 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cancer | 21732550 | CNVD |
Gastric cancer | 22539939 | CNVD |
Cancer | 21183584 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cervical cancer | 21062161 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Glioblastoma | 17090523 | CNVD |
Lung cancer | 16773561 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Bladder cancer | 19088036 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Melanoma | 16977458 | CNVD |
Glioblastoma multiforme | 17369134 | CNVD |
Chagasic megaesophagus | 20163722 | CNVD |
Melanoma | 19566914 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Hodgkin''s lymphoma | 18179710 | CNVD |
Glioma | 20126413 | CNVD |
Melanoma | 17363583 | CNVD |
Glioblastoma multiforme | 19115005 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Adenoid cystic carcinoma | 18332873 | CNVD |
Cancer | 20581869 | CNVD |
Oral cancer | 22144094 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Oral cancer | 21386901 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 21858162 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:22661400-22670600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
2 | chr9:22668000-22668200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
3 | chr9:22668800-22671000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr9:22669400-22669600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
5 | chr9:22669600-22672000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
6 | chr9:22670600-22672000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr9:22671000-22680800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr9:22671200-22672200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |