Variant report
Variant | esv17629 |
---|---|
Chromosome Location | chr9:136617313-136618084 |
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 |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr9:136617189..136619895-chr9:136623419..136625619,3 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs376683413 | chr9:136617316-136617317 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs534375954 | chr9:136617322-136617323 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs552936770 | chr9:136617348-136617349 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs682535 | chr9:136617392-136617393 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs563130806 | chr9:136617393-136617394 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs492123 | chr9:136617397-136617398 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs147153883 | chr9:136617435-136617436 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
8 | rs140930746 | chr9:136617455-136617456 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
9 | rs192107494 | chr9:136617480-136617481 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
10 | rs115205296 | chr9:136617481-136617482 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
11 | rs528596842 | chr9:136617483-136617484 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
12 | rs540706269 | chr9:136617509-136617510 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
13 | rs565299349 | chr9:136617520-136617521 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
14 | rs185037713 | chr9:136617580-136617581 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
15 | rs529327066 | chr9:136617621-136617622 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
16 | rs569899038 | chr9:136617628-136617629 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
17 | rs530707571 | chr9:136617662-136617663 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
18 | rs548776502 | chr9:136617685-136617686 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
19 | rs494903 | chr9:136617706-136617707 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs549116401 | chr9:136617750-136617751 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
21 | rs534426823 | chr9:136617800-136617801 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370140587 | chr9:136617801-136617802 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs495817 | chr9:136617805-136617806 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs190546700 | chr9:136617823-136617824 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs556905513 | chr9:136617845-136617846 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs368039721 | chr9:136617847-136617848 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs371602930 | chr9:136617849-136617850 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs116722235 | chr9:136617850-136617851 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs543294039 | chr9:136617851-136617852 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs555220515 | chr9:136617879-136617880 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs517702 | chr9:136617895-136617896 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs10993785 | chr9:136617904-136617905 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs79986038 | chr9:136617924-136617925 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs518501 | chr9:136617948-136617949 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs518539 | chr9:136617957-136617958 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs10993786 | chr9:136617973-136617974 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs181986072 | chr9:136617974-136617975 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs140218344 | chr9:136617986-136617987 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs549696586 | chr9:136618008-136618009 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs2519999 | chr9:136618025-136618026 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs528297920 | chr9:136618053-136618054 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs679696 | chr9:136618067-136618068 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs519471 | chr9:136618075-136618076 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Developmental delay | 19490664 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Medulloblastoma | 21979893 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 16751803 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Leukemia | 17361228 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Glioblastoma | 16823260 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Brain cancer | 20823417 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Heart disease | 21282601 | CNVD |
Lung cancer | 18438408 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 18632612 | CNVD |
Cardiac fibroma | 18329553 | CNVD |
Lung cancer | 19147751 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 16585170 | CNVD |
Ependymoma | 19289631 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Cervical cancer | 17311676 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastric cancer | 17908304 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Chordoma | 18071362 | CNVD |
small cell lung cancer | 20016488 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Kleefstra Syndrome | 21538692 | CNVD |
Disorders of sex development | 22290220 | CNVD |
Cancer | 21183584 | CNVD |
Chronic myelomonocytic leukemia | 16760666 | CNVD |
Abnormal phenotypes | 18644119 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Tuberous sclerosis | 19566914 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20581869 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21509527 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Bladder cancer | 21909424 | CNVD |
Cancer | 17160897 | CNVD |
Ependymoma | 20639864 | CNVD |
Breast cancer | 20932292 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Idiopathic chronic pancreatitis | 21572526 | CNVD |
Kleefstra syndrome | 22670141 | CNVD |
Schizophrenia | 22241247 | CNVD |
9q deletion syndrome | 16826528 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Non-syndromic sensorineural hearing loss | 19293338 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:136616200-136620800 | Enhancers | HepG2 | liver |
2 | chr9:136616600-136618600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr9:136616800-136621000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
4 | chr9:136617000-136618000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr9:136617000-136618200 | Enhancers | Fetal Thymus | thymus |
6 | chr9:136617000-136620600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
7 | chr9:136617000-136629000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr9:136617200-136617600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr9:136617400-136617800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
10 | chr9:136617400-136628800 | Weak transcription | HSMM | muscle |
11 | chr9:136617600-136617800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr9:136617600-136617800 | Flanking Active TSS | Primary hematopoietic stem cells short term culture | blood |
13 | chr9:136617600-136618000 | Enhancers | Primary T cells from cord blood | blood |
14 | chr9:136617800-136618000 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
15 | chr9:136617800-136620600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
16 | chr9:136618000-136628200 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |