Variant report
Variant | nsv970088 |
---|---|
Chromosome Location | chr6:26814715-26844272 |
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 | rs183582170 | chr6:26826408-26826409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs187696982 | chr6:26826422-26826423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs142085168 | chr6:26826462-26826463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs543129996 | chr6:26826486-26826487 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs193248549 | chr6:26826504-26826505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs535079410 | chr6:26826505-26826506 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs114128168 | chr6:26826555-26826556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs143065886 | chr6:26826557-26826558 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs537496231 | chr6:26826694-26826695 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs556170450 | chr6:26826714-26826715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs576634142 | chr6:26826729-26826730 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs576316652 | chr6:26826792-26826793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs113032355 | chr6:26826804-26826805 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | mRNA abundance |
14 | rs185707524 | chr6:26826870-26826871 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs373165336 | chr6:26826902-26826903 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs571916663 | chr6:26826911-26826912 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs540676494 | chr6:26826964-26826965 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs2984034 | chr6:26827002-26827003 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs2984035 | chr6:26827007-26827008 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs563883039 | chr6:26827022-26827023 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs532756732 | chr6:26827045-26827046 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190069813 | chr6:26827084-26827085 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs559591056 | chr6:26827115-26827116 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs529989050 | chr6:26827128-26827129 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs529563332 | chr6:26827145-26827146 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs549422815 | chr6:26827148-26827149 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs566230622 | chr6:26827168-26827169 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs181601796 | chr6:26827242-26827243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs551896858 | chr6:26827333-26827334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs571806268 | chr6:26827407-26827408 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs537029990 | chr6:26827502-26827503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs375877005 | chr6:26827534-26827535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs557298959 | chr6:26827571-26827572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs184050023 | chr6:26827577-26827578 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs535697297 | chr6:26827589-26827590 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs377227880 | chr6:26827650-26827651 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs571904549 | chr6:26827703-26827704 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs2475058 | chr6:26827772-26827773 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs188737562 | chr6:26827775-26827776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs557414709 | chr6:26827815-26827816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs181381835 | chr6:26827824-26827825 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs2475063 | chr6:26827833-26827834 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs2475067 | chr6:26827847-26827848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs111722403 | chr6:26827850-26827851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs2475068 | chr6:26827896-26827897 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
46 | rs369978722 | chr6:26827928-26827929 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs2475070 | chr6:26827985-26827986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs547677189 | chr6:26834603-26834604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs2475135 | chr6:26834606-26834607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs190913449 | chr6:26834642-26834643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Gastric cancer | 16891809 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 21448237 | CNVD |
Cancer | 20164919 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 22844521 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Ovarian cancer | 22844521 | CNVD |
Prostate cancer | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 21552322 | CNVD |
Immune disease | 21076436 | CNVD |
Autoimmune disease | 19135723 | CNVD |
Systemic lupus erythematosus | 17953491 | CNVD |
Recurrent Infections | 22737222 | CNVD |
Systemic lupus erythematosus | 21904924 | CNVD |
Ependymoma | 19289631 | CNVD |
Gestational infection | 22844521 | CNVD |
Head circumference | 22844521 | CNVD |
Infertility | 22844521 | CNVD |
Recurrent birth weight diabetes | 22844521 | CNVD |
Obesity | 22844521 | CNVD |
Recurrent pregnancy loss | 22844521 | CNVD |
Intellectual disability | 21811512 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Nasopharyngeal cancer | 22815911 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 17133270 | CNVD |
Autism | 22495311 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Cancer | 16790693 | CNVD |
Breast cancer | 22032731 | CNVD |
Cervical cancer | 21062161 | CNVD |
Breast cancer | 21785460 | CNVD |
Retinoblastoma | 16790693 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Williams-beuren syndrome | 16971481 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 21569311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16397240 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21364760 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:26826400-26826800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
2 | chr6:26826600-26827200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
3 | chr6:26826800-26827200 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
4 | chr6:26827200-26828000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
5 | chr6:26834600-26848800 | Weak transcription | Liver | Liver |
6 | chr6:26838000-26866200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
7 | chr6:26838400-26853400 | Weak transcription | Adipose Nuclei | Adipose |
8 | chr6:26838800-26857600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
9 | chr6:26839000-26850600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
10 | chr6:26841400-26866200 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
11 | chr6:26843600-26848600 | Weak transcription | Fetal Stomach | stomach |