Variant report
Variant | nsv526451 |
---|---|
Chromosome Location | chr9:7485343-7489047 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr9:7488272..7490593-chr9:7498267..7499824,2 | MCF-7 | breast: |
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 | rs144472165 | chr9:7487291-7487292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs530547233 | chr9:7487297-7487298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs370459297 | chr9:7487304-7487305 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs549155986 | chr9:7487341-7487342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs13292874 | chr9:7487363-7487364 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs534868848 | chr9:7487398-7487399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs553326561 | chr9:7487446-7487447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs566044591 | chr9:7487472-7487473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs147428442 | chr9:7487505-7487506 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs557897513 | chr9:7487538-7487539 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs563464614 | chr9:7487573-7487574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs557717179 | chr9:7487588-7487589 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs577863128 | chr9:7487620-7487621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs543594754 | chr9:7487625-7487626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs555886806 | chr9:7487662-7487663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs376208621 | chr9:7487665-7487666 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs370845735 | chr9:7487723-7487724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs148729297 | chr9:7487736-7487737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs559632463 | chr9:7487737-7487738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs181099875 | chr9:7487768-7487769 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs185082553 | chr9:7487777-7487778 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs563182398 | chr9:7487799-7487800 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs142261420 | chr9:7487811-7487812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs10976316 | chr9:7487841-7487842 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs543114054 | chr9:7487842-7487843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs16926236 | chr9:7487847-7487848 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs542311238 | chr9:7487852-7487853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs369953217 | chr9:7487913-7487914 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs562166657 | chr9:7487920-7487921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs190615410 | chr9:7487946-7487947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs151283129 | chr9:7487948-7487949 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs114888833 | chr9:7487950-7487951 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs10976317 | chr9:7487974-7487975 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
34 | rs564556638 | chr9:7487992-7487993 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs372334522 | chr9:7487996-7487997 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs140483788 | chr9:7488013-7488014 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs546654748 | chr9:7488014-7488015 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs569957714 | chr9:7488031-7488032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs370312139 | chr9:7488032-7488033 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs537504295 | chr9:7488033-7488034 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs11791432 | chr9:7488117-7488118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs555460957 | chr9:7488158-7488159 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs573858971 | chr9:7488179-7488180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs541209996 | chr9:7488187-7488188 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs553178471 | chr9:7488190-7488191 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs578193556 | chr9:7488196-7488197 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs545416554 | chr9:7488239-7488240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs571653001 | chr9:7488282-7488283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs79731409 | chr9:7488327-7488328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs575154583 | chr9:7488356-7488357 | Enhancers | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:7487200-7488600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
2 | chr9:7487400-7488600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
3 | chr9:7487600-7488200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
4 | chr9:7488400-7490200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr9:7488400-7490400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
6 | chr9:7488600-7490400 | Enhancers | Fetal Muscle Leg | muscle |
7 | chr9:7488600-7491200 | Enhancers | Rectal Mucosa Donor 31 | rectum |
8 | chr9:7489000-7490200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |