Variant report
Variant | nsv818381 |
---|---|
Chromosome Location | chr5:120055741-120066820 |
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 | rs1020472 | chr5:120055741-120055742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs536362215 | chr5:120055745-120055746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs529895225 | chr5:120055811-120055812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs17502938 | chr5:120055902-120055903 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs118123771 | chr5:120055942-120055943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs145390028 | chr5:120056054-120056055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs552574045 | chr5:120056055-120056056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs1026126 | chr5:120056096-120056097 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs538365119 | chr5:120056111-120056112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs550352439 | chr5:120056160-120056161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs568680938 | chr5:120056216-120056217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs536096735 | chr5:120056222-120056223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs554169241 | chr5:120056226-120056227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs370747378 | chr5:120056227-120056228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs572729271 | chr5:120056242-120056243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs2017378 | chr5:120056258-120056259 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs147667812 | chr5:120056276-120056277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs576481478 | chr5:120056300-120056301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs543909061 | chr5:120056302-120056303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs556801539 | chr5:120056410-120056411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs578122119 | chr5:120056417-120056418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs545556643 | chr5:120056418-120056419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs560389114 | chr5:120056434-120056435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs6884326 | chr5:120056453-120056454 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs562281727 | chr5:120056470-120056471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs141847777 | chr5:120056488-120056489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs188361876 | chr5:120056536-120056537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs192589374 | chr5:120056565-120056566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs368679805 | chr5:120056585-120056586 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs79173465 | chr5:120056615-120056616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs527597405 | chr5:120056619-120056620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs183657238 | chr5:120056660-120056661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs186474186 | chr5:120056684-120056685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs192696647 | chr5:120056714-120056715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs550289130 | chr5:120056724-120056725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs142386767 | chr5:120056746-120056747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113834418 | chr5:120056755-120056756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs543137149 | chr5:120056783-120056784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs548006884 | chr5:120056870-120056871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs142358543 | chr5:120056880-120056881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs540126683 | chr5:120056934-120056935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs558224569 | chr5:120056945-120056946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs561315378 | chr5:120056950-120056951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs531719690 | chr5:120056962-120056963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs537490950 | chr5:120056998-120056999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs78691665 | chr5:120057003-120057004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs574226545 | chr5:120057051-120057052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs190127068 | chr5:120057077-120057078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs111520356 | chr5:120057082-120057083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs77786795 | chr5:120057132-120057133 | Weak transcription | n/a | n/a | Overlapped CNVs | 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 |
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 |
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 |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Colorectal cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Renal cell carcinoma | 19377443 | CNVD |
Prostate cancer | 16461572 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Glaucoma | 21310917 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:120045800-120061600 | Weak transcription | HSMM | muscle |
2 | chr5:120060800-120063200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
3 | chr5:120061000-120061200 | Enhancers | Aorta | Aorta |
4 | chr5:120061000-120062400 | Enhancers | Brain Germinal Matrix | brain |
5 | chr5:120061200-120067000 | Weak transcription | Aorta | Aorta |
6 | chr5:120061600-120062200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
7 | chr5:120061600-120062600 | Enhancers | HSMM | muscle |
8 | chr5:120061800-120062200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
9 | chr5:120061800-120062400 | Enhancers | Muscle Satellite Cultured Cells | -- |
10 | chr5:120064800-120065000 | Enhancers | HSMM | muscle |