Variant report
Variant | nsv516864 |
---|---|
Chromosome Location | chr9:7941682-7945146 |
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 | rs12003195 | chr9:7941682-7941683 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs140252179 | chr9:7941698-7941699 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs150379507 | chr9:7941705-7941706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs138176295 | chr9:7941723-7941724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs549619875 | chr9:7941758-7941759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs547499951 | chr9:7941799-7941800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs143020396 | chr9:7941861-7941862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs570854674 | chr9:7941875-7941876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs375001227 | chr9:7941899-7941900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs147463957 | chr9:7941920-7941921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs550290414 | chr9:7941922-7941923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs369479630 | chr9:7941936-7941937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs568463688 | chr9:7941941-7941942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs368499288 | chr9:7941946-7941947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs554420302 | chr9:7941969-7941970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs138277699 | chr9:7942015-7942016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs186258703 | chr9:7942040-7942041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs558163067 | chr9:7942043-7942044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs116527381 | chr9:7942064-7942065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs543057557 | chr9:7942072-7942073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs36071764 | chr9:7942094-7942095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs149598769 | chr9:7942108-7942109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs74830083 | chr9:7942147-7942148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs540692618 | chr9:7942155-7942156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs116388396 | chr9:7942161-7942162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs144284025 | chr9:7942238-7942239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs190723572 | chr9:7942239-7942240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs561152635 | chr9:7942244-7942245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs148771065 | chr9:7942254-7942255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs538197644 | chr9:7942280-7942281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs567306216 | chr9:7942290-7942291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs530793500 | chr9:7942322-7942323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs142382000 | chr9:7942353-7942354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs568408130 | chr9:7942356-7942357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs181771847 | chr9:7942362-7942363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs529928667 | chr9:7942386-7942387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs546475281 | chr9:7942407-7942408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs77028451 | chr9:7942452-7942453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs372750592 | chr9:7942453-7942454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs566321907 | chr9:7942454-7942455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs540026290 | chr9:7942464-7942465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs186853713 | chr9:7942467-7942468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs558333369 | chr9:7942493-7942494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs146398164 | chr9:7942509-7942510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs555086362 | chr9:7942554-7942555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs552109493 | chr9:7942609-7942610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs139774745 | chr9:7942686-7942687 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs540756461 | chr9:7942714-7942715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs559022068 | chr9:7942740-7942741 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs199536788 | chr9:7942744-7942745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Disorders of sex development | 21048976 | 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 |
Oral squamous cell carcinoma | 17134496 | 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 |
Developmental delay | 21147756 | 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 |
Myelodysplastic syndrome | 21251322 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21858162 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Autism | 22495311 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Breast cancer | 21364760 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Glioblastoma | 19074898 | CNVD |
Malignant melanoma | 19074898 | CNVD |
Prostate cancer | 16573809 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Cancer | 20164920 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:7938400-7952000 | Weak transcription | Aorta | Aorta |
2 | chr9:7944200-7945000 | Enhancers | Dnd41 | blood |
3 | chr9:7944400-7945000 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
4 | chr9:7944400-7948200 | Enhancers | Fetal Heart | heart |
5 | chr9:7944600-7945200 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
6 | chr9:7945000-7946800 | Weak transcription | Dnd41 | blood |