Variant report
Variant | nsv465387 |
---|---|
Chromosome Location | chr8:4470747-4481209 |
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 | rs2725042 | chr8:4470747-4470748 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs57258918 | chr8:4470771-4470772 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs535391963 | chr8:4470787-4470788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs547084370 | chr8:4470798-4470799 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs2617105 | chr8:4470806-4470807 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs539177690 | chr8:4470813-4470814 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs2725041 | chr8:4470821-4470822 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs181838923 | chr8:4470828-4470829 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs536885257 | chr8:4470832-4470833 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs555237449 | chr8:4470843-4470844 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs187047737 | chr8:4470844-4470845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs191423637 | chr8:4470854-4470855 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs116214221 | chr8:4470863-4470864 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs565195708 | chr8:4470869-4470870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs13271436 | chr8:4470921-4470922 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs183290045 | chr8:4470935-4470936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs75973256 | chr8:4470940-4470941 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs143383646 | chr8:4470944-4470945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs550446429 | chr8:4470965-4470966 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs562327175 | chr8:4470977-4470978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs529627428 | chr8:4470987-4470988 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs146741277 | chr8:4470995-4470996 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs565515348 | chr8:4470997-4470998 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs539453559 | chr8:4471000-4471001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs562417960 | chr8:4471018-4471019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs187009386 | chr8:4471037-4471038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs140427858 | chr8:4471048-4471049 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs189874205 | chr8:4471054-4471055 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs76547405 | chr8:4471059-4471060 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs182158140 | chr8:4471092-4471093 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs187876043 | chr8:4471107-4471108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs200210140 | chr8:4471122-4471123 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs574356529 | chr8:4471130-4471131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs143426802 | chr8:4471150-4471151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs35443110 | chr8:4479807-4479808 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs561592883 | chr8:4479810-4479811 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs558695502 | chr8:4479823-4479824 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs538645986 | chr8:4479832-4479833 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs12335285 | chr8:4479836-4479837 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
40 | rs189865898 | chr8:4479841-4479842 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs556174400 | chr8:4479842-4479843 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs150558612 | chr8:4479858-4479859 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs542590315 | chr8:4479860-4479861 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs543971581 | chr8:4479880-4479881 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs182140135 | chr8:4479882-4479883 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs62486710 | chr8:4479890-4479891 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs377105594 | chr8:4479891-4479892 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs187855039 | chr8:4479894-4479895 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs138606891 | chr8:4479895-4479896 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs540287837 | chr8:4479899-4479900 | Enhancers ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
abnormal development | 18461090 | CNVD |
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | 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 |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Epilepsy | 22083797 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164920 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Prostate cancer | 17217626 | CNVD |
Developmental delay | 19128483 | CNVD |
Neuroticism | 17667963 | CNVD |
Leukoplakia | 24403051 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Colorectal cancer | 22014273 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:4468200-4471000 | Enhancers | Fetal Heart | heart |
2 | chr8:4470800-4471000 | Enhancers | Pancreas | Pancrea |
3 | chr8:4470800-4471200 | Enhancers | Fetal Muscle Leg | muscle |
4 | chr8:4479800-4480000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
5 | chr8:4479800-4480000 | ZNF genes & repeats | Ganglion Eminence derived primary cultured neurospheres | brain |
6 | chr8:4479800-4480000 | Enhancers | Fetal Muscle Leg | muscle |
7 | chr8:4479800-4480200 | Active TSS | Brain Angular Gyrus | brain |
8 | chr8:4479800-4480200 | Active TSS | Brain Cingulate Gyrus | brain |
9 | chr8:4479800-4480200 | Active TSS | Brain Inferior Temporal Lobe | brain |
10 | chr8:4479800-4480200 | Active TSS | Brain Dorsolateral Prefrontal Cortex | brain |
11 | chr8:4479800-4480200 | Active TSS | Brain Substantia Nigra | brain |
12 | chr8:4479800-4480400 | Active TSS | Brain Hippocampus Middle | brain |
13 | chr8:4480000-4481800 | Weak transcription | Fetal Muscle Leg | muscle |
14 | chr8:4480000-4494400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |