Variant report
Variant | nsv10045 |
---|---|
Chromosome Location | chr2:76585270-76588271 |
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 | rs564623602 | chr2:76585307-76585308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs114639054 | chr2:76585343-76585344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs186688042 | chr2:76585383-76585384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs1121271 | chr2:76585390-76585391 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs200213081 | chr2:76585422-76585423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs545035663 | chr2:76585448-76585449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs529095832 | chr2:76585450-76585451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs144050859 | chr2:76585479-76585480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs146441637 | chr2:76585533-76585534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs191999935 | chr2:76585551-76585552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs551061443 | chr2:76585559-76585560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs566565924 | chr2:76585619-76585620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs533602622 | chr2:76585653-76585654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs563707833 | chr2:76585654-76585655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs555035974 | chr2:76585660-76585661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs568362848 | chr2:76585673-76585674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs535632446 | chr2:76585687-76585688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs183361942 | chr2:76585698-76585699 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs575816338 | chr2:76585726-76585727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs4569502 | chr2:76585748-76585749 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs78758402 | chr2:76585750-76585751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs573261238 | chr2:76585751-76585752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs72807175 | chr2:76585788-76585789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs540760972 | chr2:76585806-76585807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs562162700 | chr2:76585815-76585816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs34539041 | chr2:76585836-76585837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs372591702 | chr2:76585864-76585865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs561270851 | chr2:76585869-76585870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs529142748 | chr2:76585902-76585903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs149034730 | chr2:76585932-76585933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs528632500 | chr2:76585941-76585942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs547185063 | chr2:76585944-76585945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs533050522 | chr2:76585960-76585961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs187927960 | chr2:76585964-76585965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs559143675 | chr2:76585965-76585966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs527271104 | chr2:76585972-76585973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs114930532 | chr2:76586014-76586015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs148496814 | chr2:76586015-76586016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs60607735 | chr2:76586082-76586083 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs536054149 | chr2:76586087-76586088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs557224807 | chr2:76586093-76586094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs73937050 | chr2:76586172-76586173 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs539781960 | chr2:76586174-76586175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs569659972 | chr2:76586270-76586271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs558411309 | chr2:76586280-76586281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs573324333 | chr2:76586297-76586298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs540623269 | chr2:76586314-76586315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs555908121 | chr2:76586325-76586326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs182371753 | chr2:76586331-76586332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs17515858 | chr2:76586332-76586333 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Adrenal tumor | 17535989 | CNVD |
Breast cancer | 21264507 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Medulloblastoma | 17522785 | CNVD |
Cancer | 23418310 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Lung cancer | 18438408 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Mental retardation | 17124404 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Cancer | 17440070 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Attention deficit hyperactivity disorder | 21324949 | CNVD |
Breast cancer | 16272173 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:76584800-76586600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |