Variant report
Variant | nsv1022846 |
---|---|
Chromosome Location | chr6:23765651-23776497 |
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 | rs565462825 | chr6:23774008-23774009 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs576792457 | chr6:23774009-23774010 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs112434470 | chr6:23774040-23774041 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs138167364 | chr6:23774059-23774060 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs375975916 | chr6:23774088-23774089 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs149526799 | chr6:23774089-23774090 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs574080629 | chr6:23774090-23774091 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs568886609 | chr6:23774130-23774131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs13198680 | chr6:23774167-23774168 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs553421031 | chr6:23774179-23774180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs146036164 | chr6:23774206-23774207 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs113027125 | chr6:23774251-23774252 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs190289488 | chr6:23774261-23774262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs577361218 | chr6:23774265-23774266 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs9356892 | chr6:23774341-23774342 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs9356893 | chr6:23774359-23774360 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs9366532 | chr6:23774365-23774366 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs560878920 | chr6:23774390-23774391 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs528281740 | chr6:23774413-23774414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs180912759 | chr6:23774414-23774415 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs546426097 | chr6:23774450-23774451 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs534682326 | chr6:23774470-23774471 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs6911487 | chr6:23774487-23774488 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs114618907 | chr6:23774507-23774508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs138630064 | chr6:23774545-23774546 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs570383935 | chr6:23774559-23774560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs115086893 | chr6:23774595-23774596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs184975622 | chr6:23774604-23774605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs9356894 | chr6:23774606-23774607 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs537658830 | chr6:23774619-23774620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs6911660 | chr6:23774622-23774623 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs553088238 | chr6:23774648-23774649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs35080526 | chr6:23774653-23774654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs371172910 | chr6:23774656-23774657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs117945628 | chr6:23774659-23774660 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs117580225 | chr6:23774667-23774668 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs35946783 | chr6:23774672-23774673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs575183464 | chr6:23774718-23774719 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs542597570 | chr6:23774719-23774720 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs74661921 | chr6:23774730-23774731 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs369869588 | chr6:23774754-23774755 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs200027722 | chr6:23774758-23774759 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs146254839 | chr6:23774759-23774760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs564987979 | chr6:23774798-23774799 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs577896793 | chr6:23774811-23774812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs538916112 | chr6:23774812-23774813 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs115037576 | chr6:23774815-23774816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs75349197 | chr6:23774816-23774817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs529681885 | chr6:23774847-23774848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs549457216 | chr6:23774854-23774855 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Colorectal cancer | 21297112 | CNVD |
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 |
Myelodysplastic syndrome | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Multiple myeloma | 17550852 | 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 |
Osteosarcoma | 16790693 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 17133270 | CNVD |
Autism | 22495311 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Cancer | 16790693 | CNVD |
Breast cancer | 22032731 | CNVD |
Cervical cancer | 21062161 | CNVD |
Breast cancer | 21785460 | CNVD |
Bladder cancer | 16790693 | CNVD |
Oral squamous cell carcinoma | 17134496 | 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 |
Lung cancer | 19153074 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 21183584 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Williams-beuren syndrome | 16971481 | CNVD |
Uveal melanoma | 20484589 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:23774000-23774600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
2 | chr6:23774600-23774800 | Enhancers | Rectal Smooth Muscle | rectum |
3 | chr6:23774600-23775000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
4 | chr6:23774600-23775600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr6:23775200-23775800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
6 | chr6:23775400-23775600 | Enhancers | Rectal Smooth Muscle | rectum |