Variant report
Variant | nsv459969 |
---|---|
Chromosome Location | chr2:184797402-184800983 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZNF804A-2 | chr2:184799099-184799228 | NONHSAT075946 |
2 | lnc-ZNF804A-2 | chr2:184799100-184799228 | XLOC_001779 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs12473634 | chr2:184797402-184797403 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs372882264 | chr2:184797418-184797419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs140170570 | chr2:184797477-184797478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs187534933 | chr2:184797478-184797479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs552580026 | chr2:184797505-184797506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569111965 | chr2:184797536-184797537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs76854640 | chr2:184797545-184797546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs554872438 | chr2:184797621-184797622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs114814654 | chr2:184797629-184797630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs534005425 | chr2:184797666-184797667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs553670931 | chr2:184797675-184797676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs573024899 | chr2:184797707-184797708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs192062686 | chr2:184797767-184797768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs544325594 | chr2:184797797-184797798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs1817567 | chr2:184797826-184797827 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
16 | rs76033904 | chr2:184797837-184797838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs187682244 | chr2:184797839-184797840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs148025687 | chr2:184797840-184797841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs201015511 | chr2:184797841-184797842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs113957689 | chr2:184797843-184797844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs561215431 | chr2:184797904-184797905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs530305844 | chr2:184797938-184797939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs1351908 | chr2:184797946-184797947 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs76466769 | chr2:184797981-184797982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532644195 | chr2:184798034-184798035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs560497412 | chr2:184798050-184798051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs527968242 | chr2:184798101-184798102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs552351055 | chr2:184798125-184798126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs373864839 | chr2:184798199-184798200 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs77196775 | chr2:184798204-184798205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs563854627 | chr2:184798253-184798254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs184282614 | chr2:184798342-184798343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs79667833 | chr2:184798374-184798375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs534073500 | chr2:184798429-184798430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs553981747 | chr2:184798464-184798465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs115131970 | chr2:184798466-184798467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs539526771 | chr2:184798504-184798505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs77165774 | chr2:184798550-184798551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs567154032 | chr2:184798568-184798569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs144240639 | chr2:184798572-184798573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs16825231 | chr2:184798593-184798594 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs571346242 | chr2:184798613-184798614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs574833441 | chr2:184798619-184798620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs147356499 | chr2:184798678-184798679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs560748656 | chr2:184798681-184798682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs826147 | chr2:184798699-184798700 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs559514906 | chr2:184798718-184798719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs546301664 | chr2:184798786-184798787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs562998470 | chr2:184798810-184798811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs34218658 | chr2:184798815-184798816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ependymoma | 16718352 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 18522746 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Breast cancer | 16272173 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Autism | 16446308 | CNVD |
Autism | 19401682 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Lung cancer | 18438408 | CNVD |
Glioblastoma | 21080181 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Facial dysmorphism | 20548289 | CNVD |
Mental retardation | 20548289 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cancer | 21183584 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Autism | 19329560 | CNVD |
Autism | 22543975 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:184793000-184809000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr2:184800200-184800400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr2:184800400-184802000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |