Variant report
Variant | nsv609882 |
---|---|
Chromosome Location | chr8:4583406-4611924 |
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 | rs293873 | chr8:4583406-4583407 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs189600681 | chr8:4583409-4583410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs561194213 | chr8:4583418-4583419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs528653053 | chr8:4583424-4583425 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs528450442 | chr8:4583432-4583433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs548601491 | chr8:4583433-4583434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs79103394 | chr8:4583435-4583436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs148817662 | chr8:4583466-4583467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs143462336 | chr8:4583495-4583496 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs373908128 | chr8:4583521-4583522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs181365132 | chr8:4583525-4583526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs568985772 | chr8:4583543-4583544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs557413632 | chr8:4583553-4583554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs148004458 | chr8:4583557-4583558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs569221042 | chr8:4583574-4583575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs184470033 | chr8:4583604-4583605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs533730717 | chr8:4583611-4583612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs558839806 | chr8:4583626-4583627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs36048542 | chr8:4583633-4583634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs550821948 | chr8:4583648-4583649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs539821610 | chr8:4583658-4583659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs529337851 | chr8:4583665-4583666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs542661208 | chr8:4583666-4583667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs569802207 | chr8:4583673-4583674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs116449501 | chr8:4583694-4583695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs140802973 | chr8:4583695-4583696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs563493607 | chr8:4583697-4583698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs144680383 | chr8:4583748-4583749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542753954 | chr8:4583749-4583750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs386721368 | chr8:4583751-4583752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs571897850 | chr8:4583753-4583754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs371383349 | chr8:4583764-4583765 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs565590091 | chr8:4583779-4583780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs138382625 | chr8:4583793-4583794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs180727724 | chr8:4583805-4583806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs186358307 | chr8:4583806-4583807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs536242356 | chr8:4583808-4583809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs375914961 | chr8:4583813-4583814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs527975383 | chr8:4583817-4583818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs142975260 | chr8:4583828-4583829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs146144750 | chr8:4583829-4583830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs534012651 | chr8:4583831-4583832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs558775861 | chr8:4583834-4583835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs138961947 | chr8:4583855-4583856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs372618181 | chr8:4583856-4583857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs201333738 | chr8:4583873-4583874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs375898269 | chr8:4583905-4583906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs115264590 | chr8:4583918-4583919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs899145 | chr8:4583927-4583928 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
50 | rs149346523 | chr8:4583945-4583946 | Weak transcription | 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 |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:4570600-4586800 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
2 | chr8:4586800-4587800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
3 | chr8:4587800-4592600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
4 | chr8:4592400-4592800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
5 | chr8:4592400-4593200 | Enhancers | Colon Smooth Muscle | Colon |
6 | chr8:4592600-4593200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
7 | chr8:4593200-4593600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
8 | chr8:4593600-4593800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
9 | chr8:4593800-4616600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
10 | chr8:4597200-4597600 | Enhancers | Brain Inferior Temporal Lobe | brain |
11 | chr8:4597200-4598000 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
12 | chr8:4610600-4612600 | Enhancers | Fetal Brain Male | brain |
13 | chr8:4611000-4611400 | Enhancers | Stomach Smooth Muscle | stomach |