Variant report
Variant | nsv516201 |
---|---|
Chromosome Location | chr2:209021232-209021625 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PIKFYVE-4 | chr2:209021271-209021486 | NONHSAT076632 |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs796271 | chr2:209021232-209021233 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs78890386 | chr2:209021236-209021237 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs796272 | chr2:209021301-209021302 | Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs537349117 | chr2:209021314-209021315 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs192108289 | chr2:209021324-209021325 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs183836854 | chr2:209021353-209021354 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs188611577 | chr2:209021359-209021360 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs114550653 | chr2:209021364-209021365 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs80248582 | chr2:209021371-209021372 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs117602648 | chr2:209021421-209021422 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs16840606 | chr2:209021457-209021458 | Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs180778507 | chr2:209021486-209021487 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs185886697 | chr2:209021488-209021489 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs189614844 | chr2:209021521-209021522 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs16840611 | chr2:209021523-209021524 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs574910022 | chr2:209021534-209021535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs540587072 | chr2:209021586-209021587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs560578235 | chr2:209021587-209021588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs139782294 | chr2:209021601-209021602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs546734437 | chr2:209021604-209021605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs79759452 | chr2:209021623-209021624 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs796273 | chr2:209021625-209021626 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ependymoma | 16718352 | 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 |
Lung cancer | 18438408 | CNVD |
Glioblastoma | 21080181 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | 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 |
Urothelial carcinoma | 21177765 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Papillary thyroid carcinoma | 22161024 | CNVD |
Cervical cancer | 21062161 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Autism | 20808228 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Ovarian cancer | 19193619 | CNVD |
Non-small cell lung cancer | 18676828 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Chordoma | 18071362 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:209020400-209021400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr2:209021000-209021600 | Enhancers | HMEC | breast |
3 | chr2:209021600-209021800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |