Variant report
Variant | nsv982158 |
---|---|
Chromosome Location | chr9:7434898-7436477 |
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 | rs550269039 | chr9:7434899-7434900 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs370472378 | chr9:7434900-7434901 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs147249359 | chr9:7434948-7434949 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs139486185 | chr9:7434958-7434959 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs530302839 | chr9:7435029-7435030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs192163412 | chr9:7435033-7435034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs566090606 | chr9:7435049-7435050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs77324912 | chr9:7435067-7435068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs112601371 | chr9:7435084-7435085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs115696368 | chr9:7435089-7435090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs529467816 | chr9:7435090-7435091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs149666306 | chr9:7435149-7435150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs370074124 | chr9:7435150-7435151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375247593 | chr9:7435153-7435154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs568258706 | chr9:7435156-7435157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs113255750 | chr9:7435160-7435161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs189496289 | chr9:7435161-7435162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs140280489 | chr9:7435165-7435166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs540621188 | chr9:7435192-7435193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs549600645 | chr9:7435197-7435198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs556591688 | chr9:7435200-7435201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs145469992 | chr9:7435243-7435244 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs577243437 | chr9:7435246-7435247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs544713640 | chr9:7435247-7435248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs201527344 | chr9:7435285-7435286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs374869329 | chr9:7435288-7435289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs146478512 | chr9:7435326-7435327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs28412790 | chr9:7435342-7435343 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs13288502 | chr9:7435344-7435345 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs560410703 | chr9:7435362-7435363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs7848304 | chr9:7435369-7435370 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs551741592 | chr9:7435370-7435371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs12350081 | chr9:7435387-7435388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs143163294 | chr9:7435406-7435407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs568112094 | chr9:7435443-7435444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs535633159 | chr9:7435449-7435450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs148270480 | chr9:7435453-7435454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs192398429 | chr9:7435490-7435491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs536664773 | chr9:7435500-7435501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs184398678 | chr9:7435520-7435521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs140961832 | chr9:7435525-7435526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs146322806 | chr9:7435528-7435529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs139173636 | chr9:7435532-7435533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs556621584 | chr9:7435548-7435549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs12341251 | chr9:7435573-7435574 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs542012397 | chr9:7435606-7435607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs560351405 | chr9:7435611-7435612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs536983102 | chr9:7435632-7435633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs375602871 | chr9:7435698-7435699 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs368725068 | chr9:7435706-7435707 | 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 |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:7432600-7435000 | Enhancers | HMEC | breast |
2 | chr9:7434600-7439400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
3 | chr9:7434600-7439800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
4 | chr9:7434800-7439400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr9:7434800-7439400 | Weak transcription | NHEK | skin |
6 | chr9:7435000-7438000 | Weak transcription | HMEC | breast |