Variant report
Variant | nsv546460 |
---|---|
Chromosome Location | chr1:71245142-71248283 |
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 |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PTGER3-8 | chr1:71246141-71247581 | NONHSAT003868 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2258875 | chr1:71245142-71245143 | Enhancers Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs549999708 | chr1:71245158-71245159 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs146552313 | chr1:71245187-71245188 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs571677158 | chr1:71245247-71245248 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs550321443 | chr1:71245248-71245249 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs570305697 | chr1:71245308-71245309 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs539297078 | chr1:71245318-71245319 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs558764028 | chr1:71245401-71245402 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs76789231 | chr1:71245417-71245418 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs534678712 | chr1:71245419-71245420 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs2258880 | chr1:71245423-71245424 | Enhancers Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs12049500 | chr1:71245429-71245430 | Enhancers Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs1409983 | chr1:71245436-71245437 | Enhancers Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs75821090 | chr1:71245458-71245459 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs577491555 | chr1:71245469-71245470 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs546412181 | chr1:71245482-71245483 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs556186518 | chr1:71245505-71245506 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs577408388 | chr1:71245536-71245537 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs559149399 | chr1:71245563-71245564 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs576355322 | chr1:71245572-71245573 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs542256520 | chr1:71245586-71245587 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs528213289 | chr1:71245589-71245590 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs547829138 | chr1:71245602-71245603 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs141191696 | chr1:71245636-71245637 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs375759730 | chr1:71245673-71245674 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs12046339 | chr1:71245703-71245704 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
27 | rs74440220 | chr1:71245710-71245711 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs570443448 | chr1:71245761-71245762 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs539236704 | chr1:71245773-71245774 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs546791424 | chr1:71245797-71245798 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs565991115 | chr1:71245815-71245816 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs111788996 | chr1:71245823-71245824 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs554804373 | chr1:71245857-71245858 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs7523175 | chr1:71245866-71245867 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs537470116 | chr1:71245875-71245876 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs138843616 | chr1:71245904-71245905 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs184689366 | chr1:71245916-71245917 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs546051962 | chr1:71246008-71246009 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs554651464 | chr1:71246051-71246052 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs559900335 | chr1:71246052-71246053 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs575937833 | chr1:71246081-71246082 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs189007017 | chr1:71246082-71246083 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs77242863 | chr1:71246090-71246091 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs115701116 | chr1:71246155-71246156 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs192601474 | chr1:71246223-71246224 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
46 | rs530405569 | chr1:71246237-71246238 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
47 | rs184993702 | chr1:71246283-71246284 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs116187050 | chr1:71246334-71246335 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs533256229 | chr1:71246342-71246343 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs543365489 | chr1:71246350-71246351 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Melanoma | 17363583 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16608533 | CNVD |
Ovarian cancer | 21720365 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 17133270 | CNVD |
Type 2 diabetes | 21956041 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
abnormal development | 18461090 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Poland''s syndrome | 22110015 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Cancer | 22429812 | CNVD |
Effusion lymphoma | 18079361 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:71243000-71247000 | Enhancers | NHDF-Ad | bronchial |
2 | chr1:71243600-71245400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
3 | chr1:71244000-71245200 | Enhancers | Osteobl | bone |
4 | chr1:71244200-71245400 | Weak transcription | NHLF | lung |
5 | chr1:71244800-71245400 | Enhancers | Muscle Satellite Cultured Cells | -- |
6 | chr1:71244800-71245600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr1:71244800-71245600 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
8 | chr1:71244800-71245800 | Enhancers | HSMM | muscle |
9 | chr1:71245200-71246200 | Weak transcription | Osteobl | bone |
10 | chr1:71245400-71246200 | Enhancers | NHLF | lung |
11 | chr1:71245600-71245800 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
12 | chr1:71245600-71245800 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
13 | chr1:71245800-71246200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
14 | chr1:71245800-71247000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
15 | chr1:71246400-71246600 | Enhancers | Osteobl | bone |