Variant report
Variant | nsv608078 |
---|---|
Chromosome Location | chr7:109073944-109101305 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:109098121..109100092-chr7:109106238..109108912,2 | MCF-7 | breast: | |
2 | chr6:159978197..159978767-chr7:109093225..109094180,2 | MCF-7 | breast: | |
3 | chr7:109089263..109091879-chr7:109094627..109097378,2 | K562 | blood: | |
4 | chr7:109089263..109091879-chr7:109094627..109097378,2 | K562 | blood: |
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 | rs538739958 | chr7:109078606-109078607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs558326817 | chr7:109078697-109078698 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs572023385 | chr7:109078712-109078713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs148390291 | chr7:109078724-109078725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs558259973 | chr7:109078728-109078729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs76346273 | chr7:109078736-109078737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs79895881 | chr7:109078769-109078770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs543305244 | chr7:109078871-109078872 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs145140006 | chr7:109078890-109078891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs115318614 | chr7:109078894-109078895 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs551471540 | chr7:109078899-109078900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs147579677 | chr7:109078901-109078902 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs73713675 | chr7:109078912-109078913 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs547506636 | chr7:109078935-109078936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs573603625 | chr7:109078936-109078937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs567638764 | chr7:109078955-109078956 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs536991289 | chr7:109079002-109079003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs112132670 | chr7:109079005-109079006 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs550448540 | chr7:109079102-109079103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs540789354 | chr7:109079142-109079143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs185791748 | chr7:109080435-109080436 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs556613853 | chr7:109080487-109080488 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs138150198 | chr7:109080497-109080498 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs111751670 | chr7:109080584-109080585 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs569580953 | chr7:109092258-109092259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs538649867 | chr7:109092277-109092278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs372892547 | chr7:109092290-109092291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs188920899 | chr7:109092295-109092296 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs117254449 | chr7:109092297-109092298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs377026579 | chr7:109092301-109092302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs554388618 | chr7:109092313-109092314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs374406385 | chr7:109092327-109092328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs369644997 | chr7:109092332-109092333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs190978236 | chr7:109092338-109092339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs542787960 | chr7:109092388-109092389 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs367629220 | chr7:109092392-109092393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs183389996 | chr7:109092396-109092397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs146383611 | chr7:109092400-109092401 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs372213906 | chr7:109092448-109092449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs565237846 | chr7:109092456-109092457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs527992683 | chr7:109092458-109092459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs186610055 | chr7:109092476-109092477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs111391227 | chr7:109092514-109092515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs561501719 | chr7:109092535-109092536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs530296171 | chr7:109092546-109092547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs555725687 | chr7:109092574-109092575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs547676907 | chr7:109092598-109092599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs139537682 | chr7:109092601-109092602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs569748934 | chr7:109092604-109092605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs570764671 | chr7:109092608-109092609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 21364760 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Melanoma | 17363583 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Breast cancer | 16397240 | CNVD |
Biliary cancer | 19435499 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Prostate cancer | 23792589 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Autism | 19401682 | CNVD |
Non-small cell lung cancer | 19889201 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Autism | 18414403 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Melanoma | 19188590 | CNVD |
small cell lung cancer | 20016488 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:109078600-109079200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr7:109080400-109080600 | Enhancers | Gastric | stomach |
3 | chr7:109092200-109092400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr7:109092400-109095200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr7:109095200-109095600 | Strong transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr7:109095600-109096000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr7:109096000-109096200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
8 | chr7:109096000-109096400 | Enhancers | H9 Cell Line | embryonic stem cell |
9 | chr7:109096200-109096600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |