Variant report
Variant | nsv521782 |
---|---|
Chromosome Location | chr8:85314840-85330924 |
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 | rs191984039 | chr8:85319205-85319206 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs534654883 | chr8:85319209-85319210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs199938664 | chr8:85319236-85319237 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs557793716 | chr8:85319251-85319252 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs577529323 | chr8:85319253-85319254 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs369258372 | chr8:85319254-85319255 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs317949 | chr8:85319255-85319256 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs2403006 | chr8:85319257-85319258 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs2403007 | chr8:85319259-85319260 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs2403008 | chr8:85319261-85319262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs559078242 | chr8:85319263-85319264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs202003301 | chr8:85319283-85319284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs547452043 | chr8:85319286-85319287 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs200454301 | chr8:85319304-85319305 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs142315273 | chr8:85319305-85319306 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs564347217 | chr8:85319314-85319315 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs533392798 | chr8:85319345-85319346 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs78849016 | chr8:85319360-85319361 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs184540683 | chr8:85319372-85319373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs529609854 | chr8:85319413-85319414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs73304320 | chr8:85319459-85319460 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs148626837 | chr8:85319513-85319514 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs118176361 | chr8:85319515-85319516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557804820 | chr8:85319563-85319564 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs571241276 | chr8:85319567-85319568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs370524782 | chr8:85319573-85319574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs112072961 | chr8:85319591-85319592 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs571171005 | chr8:85324819-85324820 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs79196641 | chr8:85324883-85324884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs114882885 | chr8:85324892-85324893 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs180754350 | chr8:85324927-85324928 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs535564209 | chr8:85324943-85324944 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs370957606 | chr8:85324961-85324962 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs568959310 | chr8:85324969-85324970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs576373438 | chr8:85324989-85324990 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs72679318 | chr8:85325007-85325008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs139229453 | chr8:85325025-85325026 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs185456134 | chr8:85325026-85325027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs190954053 | chr8:85325086-85325087 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs148828432 | chr8:85325126-85325127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs183593744 | chr8:85325139-85325140 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs557464306 | chr8:85325154-85325155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs1388417 | chr8:85325200-85325201 | Enhancers | 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 |
Acute lymphoblastic leukemia | 22237106 | 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 |
Acute monocytic leukemia | 16498392 | CNVD |
Autism | 20841430 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:85319200-85319600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr8:85319200-85319600 | Enhancers | Fetal Brain Male | brain |
3 | chr8:85324800-85325200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |