Variant report
Variant | nsv553792 |
---|---|
Chromosome Location | chr11:24435202-24452026 |
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 | rs4307720 | chr11:24435202-24435203 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs150141887 | chr11:24435226-24435227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs528283661 | chr11:24435288-24435289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs539910756 | chr11:24435308-24435309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs191977780 | chr11:24435318-24435319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs185357094 | chr11:24435324-24435325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs189808254 | chr11:24435331-24435332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs532091778 | chr11:24435352-24435353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs548768519 | chr11:24435357-24435358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs201035337 | chr11:24435396-24435397 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs565580326 | chr11:24435399-24435400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs112751610 | chr11:24435428-24435429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs375123743 | chr11:24435544-24435545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs369224687 | chr11:24435568-24435569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs571436043 | chr11:24435593-24435594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs537068156 | chr11:24435607-24435608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs138647659 | chr11:24435611-24435612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs200744110 | chr11:24435626-24435627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs2403929 | chr11:24435629-24435630 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs548915320 | chr11:24435688-24435689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs368581967 | chr11:24435711-24435712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537204370 | chr11:24435749-24435750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs372172059 | chr11:24435779-24435780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs184365107 | chr11:24435793-24435794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs16912548 | chr11:24435797-24435798 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs140419391 | chr11:24435818-24435819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs564801699 | chr11:24435840-24435841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs145595092 | chr11:24435881-24435882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs188035483 | chr11:24435891-24435892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs371088681 | chr11:24435914-24435915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs555551715 | chr11:24435932-24435933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs570851631 | chr11:24435934-24435935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs563487203 | chr11:24435947-24435948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs138105590 | chr11:24435951-24435952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs549113973 | chr11:24435968-24435969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs565815515 | chr11:24435990-24435991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs538384961 | chr11:24436012-24436013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs551127357 | chr11:24436014-24436015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs11027885 | chr11:24436022-24436023 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs536903817 | chr11:24436037-24436038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs59296326 | chr11:24436041-24436042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs374622753 | chr11:24436057-24436058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs576475765 | chr11:24436058-24436059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs200555016 | chr11:24436059-24436060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs563039498 | chr11:24436060-24436061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs60679769 | chr11:24436062-24436063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs61875434 | chr11:24436063-24436064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs34727201 | chr11:24436064-24436065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs556928048 | chr11:24436073-24436074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs149469940 | chr11:24436098-24436099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21785460 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Chordoma | 18071362 | CNVD |
Autism | 22102821 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:24431400-24440200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr11:24437000-24437200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr11:24437200-24437400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr11:24437400-24437800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr11:24439600-24440200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
6 | chr11:24440200-24442800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
7 | chr11:24442800-24443400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
8 | chr11:24443000-24444200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr11:24443200-24443600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
10 | chr11:24443200-24443600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
11 | chr11:24443200-24443600 | Enhancers | HMEC | breast |
12 | chr11:24443200-24444000 | Enhancers | NHEK | skin |
13 | chr11:24449600-24450000 | Enhancers | Fetal Intestine Large | intestine |
14 | chr11:24449800-24450200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |