Variant report
Variant | nsv466316 |
---|---|
Chromosome Location | chr9:25562454-25598674 |
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)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs1412385 | chr9:25562454-25562455 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs537677125 | chr9:25562476-25562477 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs77531251 | chr9:25562511-25562512 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs189094863 | chr9:25562512-25562513 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs576145474 | chr9:25562523-25562524 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs543585252 | chr9:25562528-25562529 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs567122762 | chr9:25562584-25562585 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs561928067 | chr9:25562623-25562624 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs140243117 | chr9:25562662-25562663 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs541352178 | chr9:25562719-25562720 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs537679009 | chr9:25562734-25562735 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs560043492 | chr9:25562740-25562741 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs527247008 | chr9:25562741-25562742 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs373327280 | chr9:25562754-25562755 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs2498738 | chr9:25562784-25562785 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs570526488 | chr9:25562788-25562789 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs531455967 | chr9:25562793-25562794 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs571219134 | chr9:25562815-25562816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs535494970 | chr9:25562842-25562843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs549929161 | chr9:25562862-25562863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs568243263 | chr9:25562870-25562871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs1537266 | chr9:25562911-25562912 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs181038713 | chr9:25562917-25562918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs76283188 | chr9:25562919-25562920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs150293966 | chr9:25562921-25562922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs553442934 | chr9:25562935-25562936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs112835428 | chr9:25562938-25562939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs183862984 | chr9:25562946-25562947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs73644505 | chr9:25562960-25562961 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs543497631 | chr9:25562968-25562969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs555481601 | chr9:25562972-25562973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs137939884 | chr9:25562984-25562985 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs541617580 | chr9:25563031-25563032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs572017736 | chr9:25563046-25563047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs559755709 | chr9:25563066-25563067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs533692970 | chr9:25563071-25563072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113912024 | chr9:25563078-25563079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs564049683 | chr9:25563114-25563115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs531367540 | chr9:25563164-25563165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs549890172 | chr9:25563178-25563179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs113089906 | chr9:25563187-25563188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs578222993 | chr9:25563189-25563190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs529029773 | chr9:25563216-25563217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs547586709 | chr9:25563256-25563257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs372588176 | chr9:25563257-25563258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs188639766 | chr9:25563276-25563277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs181384272 | chr9:25563282-25563283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs569705792 | chr9:25563303-25563304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs369596404 | chr9:25563327-25563328 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs543332983 | chr9:25563348-25563349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 16608533 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 16272173 | CNVD |
Medulloblastoma | 21979893 | 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 |
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 |
Adenoid cystic carcinoma | 18332873 | 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 | 21858162 | CNVD |
Breast cancer | 21364760 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Non-small cell lung cancer | 16651412 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
polycythaemia | 22829968 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:25561800-25562800 | Enhancers | Placenta | Placenta |
2 | chr9:25562200-25562600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr9:25562400-25563600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
4 | chr9:25562800-25563600 | Weak transcription | Placenta | Placenta |
5 | chr9:25563600-25563800 | Enhancers | Placenta | Placenta |
6 | chr9:25563600-25564000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr9:25570800-25571200 | Enhancers | Fetal Brain Female | brain |
8 | chr9:25570800-25571200 | Enhancers | Placenta Amnion | Placenta Amnion |
9 | chr9:25571000-25571400 | Active TSS | Fetal Brain Male | brain |
10 | chr9:25576200-25577600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr9:25576800-25577400 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
12 | chr9:25577400-25578600 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
13 | chr9:25577600-25583000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
14 | chr9:25581800-25583000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
15 | chr9:25583000-25584000 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
16 | chr9:25583000-25584600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
17 | chr9:25584600-25585000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
18 | chr9:25585000-25585800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
19 | chr9:25585200-25585600 | Active TSS | Psoas Muscle | Psoas |
20 | chr9:25585800-25590400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
21 | chr9:25590400-25591000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |