Variant report
Variant | nsv599302 |
---|---|
Chromosome Location | chr5:106221217-106232732 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs1392477 | chr5:106221217-106221218 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs573620889 | chr5:106221220-106221221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs78087623 | chr5:106221280-106221281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs549179547 | chr5:106221295-106221296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs567479630 | chr5:106221316-106221317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs62378312 | chr5:106221322-106221323 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs183560205 | chr5:106221336-106221337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs547218141 | chr5:106221341-106221342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs567027969 | chr5:106221369-106221370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs532868819 | chr5:106221376-106221377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs571896952 | chr5:106221399-106221400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs4514813 | chr5:106221416-106221417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs201750116 | chr5:106221450-106221451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs538689032 | chr5:106221534-106221535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs552564425 | chr5:106221544-106221545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs187709835 | chr5:106221636-106221637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs537436419 | chr5:106221652-106221653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs1353970 | chr5:106221686-106221687 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs548314635 | chr5:106221690-106221691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs145837253 | chr5:106221739-106221740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs533604618 | chr5:106221740-106221741 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs13169699 | chr5:106221771-106221772 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs369522207 | chr5:106221774-106221775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs1353971 | chr5:106221793-106221794 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs142686938 | chr5:106221830-106221831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs541239171 | chr5:106221872-106221873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs143856076 | chr5:106221878-106221879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs59510033 | chr5:106221879-106221880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs562938478 | chr5:106221880-106221881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs149667619 | chr5:106221889-106221890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs556170241 | chr5:106221899-106221900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs192672443 | chr5:106221902-106221903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs386690824 | chr5:106221910-106221911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs2463034 | chr5:106221912-106221913 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs144463254 | chr5:106221954-106221955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs540694072 | chr5:106221968-106221969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs550404969 | chr5:106221996-106221997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs79300975 | chr5:106222028-106222029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs183621337 | chr5:106222029-106222030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs112305940 | chr5:106222030-106222031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs111690645 | chr5:106222034-106222035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs35043741 | chr5:106222046-106222047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs552875560 | chr5:106222055-106222056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs563038693 | chr5:106222152-106222153 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs148584719 | chr5:106222153-106222154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs544700694 | chr5:106222169-106222170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs112179587 | chr5:106222257-106222258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs141974137 | chr5:106222281-106222282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs533663003 | chr5:106222284-106222285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs73777149 | chr5:106222310-106222311 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 16608533 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Lung cancer | 16773561 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:106214800-106223000 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
2 | chr5:106230200-106231400 | Enhancers | Primary monocytes fromperipheralblood | blood |
3 | chr5:106230200-106231400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
4 | chr5:106230600-106231400 | Enhancers | Monocytes-CD14+_RO01746 | blood |
5 | chr5:106230800-106231200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
6 | chr5:106231400-106233400 | Weak transcription | Primary monocytes fromperipheralblood | blood |