Variant report
Variant | nsv973448 |
---|---|
Chromosome Location | chr9:10101449-10109431 |
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 | rs541103077 | chr9:10104619-10104620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs183047308 | chr9:10104667-10104668 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs577387585 | chr9:10104670-10104671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs1876854 | chr9:10104705-10104706 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs4741008 | chr9:10104728-10104729 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs187722425 | chr9:10104762-10104763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs542683667 | chr9:10104767-10104768 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs529257675 | chr9:10104829-10104830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs74351581 | chr9:10104847-10104848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs193292255 | chr9:10104850-10104851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs551825989 | chr9:10104864-10104865 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs113839082 | chr9:10104877-10104878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs147658762 | chr9:10104880-10104881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs551189552 | chr9:10104897-10104898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs371594416 | chr9:10104919-10104920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs4741009 | chr9:10104924-10104925 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs369536976 | chr9:10104929-10104930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs548734447 | chr9:10104954-10104955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs142354474 | chr9:10104957-10104958 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs534440424 | chr9:10104990-10104991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs1876855 | chr9:10105033-10105034 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs566101146 | chr9:10105056-10105057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs557383579 | chr9:10105090-10105091 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs577423567 | chr9:10105114-10105115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs536893239 | chr9:10105138-10105139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs146875754 | chr9:10105152-10105153 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs187971794 | chr9:10105167-10105168 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs291313 | chr9:10105185-10105186 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs72694861 | chr9:10105205-10105206 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs192648861 | chr9:10105217-10105218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs545184187 | chr9:10105231-10105232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs35365665 | chr9:10105246-10105247 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs531021720 | chr9:10105272-10105273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs72694862 | chr9:10105279-10105280 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs531116895 | chr9:10105338-10105339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs372683916 | chr9:10105355-10105356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs184730401 | chr9:10105359-10105360 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs530340867 | chr9:10105377-10105378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs115675674 | chr9:10105402-10105403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs376979524 | chr9:10105406-10105407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs188621754 | chr9:10105430-10105431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs534569954 | chr9:10105441-10105442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs191928050 | chr9:10105452-10105453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs556608029 | chr9:10105459-10105460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs147959135 | chr9:10105475-10105476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs369387098 | chr9:10105486-10105487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs571039680 | chr9:10105492-10105493 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs72694863 | chr9:10105514-10105515 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs556755663 | chr9:10105568-10105569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs72694864 | chr9:10105587-10105588 | 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 |
Lung adenocarcinoma | 17982442 | CNVD |
Breast cancer | 21611746 | CNVD |
Melanoma | 22183965 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:10104600-10105400 | Enhancers | Pancreatic Islets | Pancreatic Islet |
2 | chr9:10104800-10105000 | Enhancers | Fetal Brain Female | brain |
3 | chr9:10105400-10107000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
4 | chr9:10107000-10107200 | Active TSS | Pancreatic Islets | Pancreatic Islet |
5 | chr9:10107200-10107400 | Flanking Active TSS | Pancreatic Islets | Pancreatic Islet |
6 | chr9:10107400-10108000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
7 | chr9:10107600-10108800 | Weak transcription | Fetal Brain Female | brain |
8 | chr9:10108000-10111600 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
9 | chr9:10108200-10109000 | Enhancers | Fetal Heart | heart |
10 | chr9:10108800-10109000 | Enhancers | Fetal Brain Female | brain |
11 | chr9:10109000-10109800 | Flanking Active TSS | Fetal Heart | heart |
12 | chr9:10109000-10112000 | Weak transcription | Fetal Brain Female | brain |