Variant report
Variant | nsv397759 |
---|---|
Chromosome Location | chr8:90104843-90110949 |
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 | rs77029011 | chr8:90104843-90104844 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs533519559 | chr8:90104855-90104856 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs539458620 | chr8:90104858-90104859 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs188128433 | chr8:90104959-90104960 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs373516465 | chr8:90104961-90104962 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs13276945 | chr8:90104962-90104963 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs13274815 | chr8:90104975-90104976 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs552878699 | chr8:90104987-90104988 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs551689092 | chr8:90105030-90105031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs574710392 | chr8:90105069-90105070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs541940112 | chr8:90105078-90105079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs557132364 | chr8:90105110-90105111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs1483376 | chr8:90105115-90105116 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs545483675 | chr8:90105126-90105127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs372273782 | chr8:90105153-90105154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs1240069 | chr8:90105157-90105158 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs528796699 | chr8:90105178-90105179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs540955775 | chr8:90105228-90105229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs116064904 | chr8:90105245-90105246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs529486095 | chr8:90105262-90105263 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs181024760 | chr8:90105313-90105314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs7825676 | chr8:90105333-90105334 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs1240068 | chr8:90105444-90105445 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs138260301 | chr8:90105456-90105457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs36059490 | chr8:90105460-90105461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs551502662 | chr8:90105492-90105493 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs566894718 | chr8:90105517-90105518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs13279621 | chr8:90105523-90105524 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs546917918 | chr8:90105526-90105527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs79777531 | chr8:90105562-90105563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs10646016 | chr8:90105629-90105630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs34003378 | chr8:90105638-90105639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs397941822 | chr8:90105647-90105648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs185389700 | chr8:90105668-90105669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs535653225 | chr8:90105696-90105697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs143931931 | chr8:90105708-90105709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575431567 | chr8:90105718-90105719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs190247947 | chr8:90105720-90105721 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs376273561 | chr8:90105736-90105737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs376109649 | chr8:90105759-90105760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs572843129 | chr8:90105765-90105766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs1240067 | chr8:90105826-90105827 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs368121519 | chr8:90105842-90105843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs371987018 | chr8:90105852-90105853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs558967020 | chr8:90105865-90105866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs7014392 | chr8:90105874-90105875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs7018265 | chr8:90105919-90105920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs544426614 | chr8:90105920-90105921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs568706083 | chr8:90105925-90105926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs1240066 | chr8:90105927-90105928 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular cancer | 18059402 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | CNVD |
abnormal development | 18461090 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 16751803 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 21399628 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
small cell lung cancer | 20016488 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 17393978 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Bladder cancer | 19088036 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Epilepsy | 20502679 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
head and neck squamous cell carcinoma | 19451471 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Breast cancer | 21611746 | CNVD |
Breast cancer | 21364760 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:90103800-90113200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr8:90104000-90105000 | Enhancers | HUVEC | blood vessel |
3 | chr8:90106400-90106600 | ZNF genes & repeats | Pancreas | Pancrea |
4 | chr8:90110600-90111000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
5 | chr8:90110600-90111600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
6 | chr8:90110800-90111000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr8:90110800-90113400 | Enhancers | Osteobl | bone |