Variant report
Variant | nsv945490 |
---|---|
Chromosome Location | chr1:195469196-195484076 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:195467909..195469471-chr1:195476696..195479659,2 | K562 | blood: | |
2 | chr1:195474802..195477777-chr1:195478958..195481457,2 | K562 | blood: | |
3 | chr1:195474802..195477777-chr1:195478958..195481457,2 | K562 | blood: | |
4 | chr1:195467909..195469471-chr1:195476696..195479659,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CFH-1 | chr1:195469301-195469368 | XLOC_000511 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs566455980 | chr1:195469307-195469308 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs554328376 | chr1:195469315-195469316 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs185493179 | chr1:195469320-195469321 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs543051898 | chr1:195469355-195469356 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs576187638 | chr1:195469367-195469368 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs543923379 | chr1:195469368-195469369 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs11802764 | chr1:195478208-195478209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs576251646 | chr1:195478238-195478239 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs558793260 | chr1:195478240-195478241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs543528122 | chr1:195478264-195478265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs149601358 | chr1:195478274-195478275 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs181275298 | chr1:195478293-195478294 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs540979635 | chr1:195478310-195478311 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs144275094 | chr1:195478315-195478316 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs574664072 | chr1:195478316-195478317 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs368656253 | chr1:195478323-195478324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs370959234 | chr1:195478342-195478343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs566047477 | chr1:195478357-195478358 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs372211140 | chr1:195478358-195478359 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs371924263 | chr1:195478620-195478621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs185427093 | chr1:195478624-195478625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs143607011 | chr1:195478680-195478681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs374853029 | chr1:195478731-195478732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs567660444 | chr1:195478779-195478780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs569488044 | chr1:195478780-195478781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs188233951 | chr1:195478791-195478792 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs558687547 | chr1:195478823-195478824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs375912831 | chr1:195478836-195478837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs576970559 | chr1:195478884-195478885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs200988908 | chr1:195478888-195478889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs553200856 | chr1:195478896-195478897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs534359352 | chr1:195478906-195478907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs146293961 | chr1:195478970-195478971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs139975987 | chr1:195478973-195478974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs143473882 | chr1:195478997-195478998 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs563405352 | chr1:195479030-195479031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575120592 | chr1:195479039-195479040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs76566321 | chr1:195479120-195479121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs181973978 | chr1:195479127-195479128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs140273657 | chr1:195479128-195479129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs1856559 | chr1:195479135-195479136 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs562092705 | chr1:195479193-195479194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs113066543 | chr1:195479195-195479196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs551278403 | chr1:195479226-195479227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs1832551 | chr1:195479277-195479278 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs540046671 | chr1:195479302-195479303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs551992952 | chr1:195479325-195479326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs570605603 | chr1:195479348-195479349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs563116860 | chr1:195479449-195479450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs114559090 | chr1:195479450-195479451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 20688739 | CNVD |
Breast cancer | 21611746 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Breast cancer | 17393978 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Mental retardation | 17847001 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Mental retardation | 21062444 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:195478200-195478400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr1:195478600-195480200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr1:195480200-195480400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
4 | chr1:195480400-195484400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
5 | chr1:195481200-195481600 | Active TSS | IMR90 fetal lung fibroblasts Cell Line | lung |
6 | chr1:195481200-195481600 | Active TSS | Foreskin Fibroblast Primary Cells skin01 | Skin |