Variant report
Variant | nsv965955 |
---|---|
Chromosome Location | chr21:39974678-39976565 |
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:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr21:39973136..39976022-chr21:39976251..39978959,2 | MCF-7 | breast: | |
2 | chr21:39976367..39979221-chr21:39982997..39985400,2 | K562 | blood: | |
3 | chr21:39973136..39976022-chr21:39976251..39978959,2 | MCF-7 | breast: | |
4 | chr21:39968614..39970527-chr21:39974019..39976201,2 | 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 | rs566321569 | chr21:39974791-39974792 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs7281963 | chr21:39974827-39974828 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs548870327 | chr21:39974862-39974863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs79846800 | chr21:39974870-39974871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs111800917 | chr21:39974952-39974953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs532009053 | chr21:39974959-39974960 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs2836558 | chr21:39974966-39974967 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs571279678 | chr21:39974968-39974969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs533879682 | chr21:39974981-39974982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs373463169 | chr21:39974987-39974988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs28735549 | chr21:39975124-39975125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs149966488 | chr21:39975129-39975130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs11702164 | chr21:39975134-39975135 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs35045950 | chr21:39975142-39975143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs369778309 | chr21:39975170-39975171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs576641152 | chr21:39975195-39975196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs2836559 | chr21:39975216-39975217 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs565279456 | chr21:39975228-39975229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs11702226 | chr21:39975283-39975284 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs57461137 | chr21:39975299-39975300 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs561001415 | chr21:39975301-39975302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs374391477 | chr21:39975310-39975311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs61079927 | chr21:39975320-39975321 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs180767488 | chr21:39975323-39975324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs58779165 | chr21:39975354-39975355 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs374798514 | chr21:39975403-39975404 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs138510542 | chr21:39975414-39975415 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs536601184 | chr21:39975430-39975431 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs73906359 | chr21:39975433-39975434 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs28637034 | chr21:39975476-39975477 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs562757971 | chr21:39975495-39975496 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs547516703 | chr21:39975504-39975505 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs12152082 | chr21:39975506-39975507 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs145087038 | chr21:39975529-39975530 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs377318348 | chr21:39975530-39975531 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs202023056 | chr21:39975532-39975533 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs536852167 | chr21:39975585-39975586 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs2836560 | chr21:39975594-39975595 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs200955222 | chr21:39975598-39975599 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs386818466 | chr21:39975599-39975600 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs201767658 | chr21:39975601-39975602 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs145324914 | chr21:39975621-39975622 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs572409677 | chr21:39975637-39975638 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs546277178 | chr21:39975641-39975642 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs79204936 | chr21:39975684-39975685 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs2836561 | chr21:39975702-39975703 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs75971865 | chr21:39975705-39975706 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs542444795 | chr21:39975732-39975733 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs562696544 | chr21:39975761-39975762 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs531545699 | chr21:39975840-39975841 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 16751803 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Down syndrome | 17412756 | CNVD |
Down syndrome | 17576883 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Seminomas | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Prostate cancer | 19156837 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Melanoma | 18172304 | CNVD |
Autism | 22958593 | CNVD |
Schizophrenia | 22958593 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Wilms tumour | 21544195 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Mental retardation | 21031080 | CNVD |
Polymicrogyria | 21031080 | CNVD |
periventricular nodular heterotopia | 21031080 | CNVD |
Myelodysplastic syndrome | 21606161 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Autism | 18414403 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Breast cancer | 21858162 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 17899364 | CNVD |
Down syndrome | 20877625 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Cancer | 20164920 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Prostate cancer | 21147910 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Prostate cancer | 17245344 | CNVD |
Prostate cancer | 20473283 | CNVD |
Chordoma | 18071362 | CNVD |
Prostate cancer | 20562851 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr21:39969000-39976600 | Weak transcription | H9 Cell Line | embryonic stem cell |
2 | chr21:39970200-39977200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr21:39970400-39976600 | Weak transcription | Fetal Brain Male | brain |
4 | chr21:39973000-39982000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
5 | chr21:39974600-39974800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
6 | chr21:39974800-39977400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
7 | chr21:39975400-39976000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
8 | chr21:39975400-39977600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
9 | chr21:39975600-39976000 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
10 | chr21:39975600-39977200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
11 | chr21:39976000-39976400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
12 | chr21:39976000-39977200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
13 | chr21:39976400-39977800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |