Variant report
Variant | esv3481044 |
---|---|
Chromosome Location | chr8:63221098-63226596 |
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 | rs557662347 | chr8:63225205-63225206 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs573730392 | chr8:63225222-63225223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs575842952 | chr8:63225225-63225226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs540034209 | chr8:63225226-63225227 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs557884337 | chr8:63225227-63225228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs149486629 | chr8:63225283-63225284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs540296001 | chr8:63225317-63225318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs143848702 | chr8:63225319-63225320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574009347 | chr8:63225342-63225343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs571710904 | chr8:63225382-63225383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs56252388 | chr8:63225383-63225384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs386412905 | chr8:63225393-63225394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs397731497 | chr8:63225395-63225396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs559379906 | chr8:63225435-63225436 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs148611425 | chr8:63225451-63225452 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs534868776 | chr8:63225476-63225477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs563643046 | chr8:63225526-63225527 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs551710347 | chr8:63225529-63225530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs530673693 | chr8:63225532-63225533 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs552401214 | chr8:63225725-63225726 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs142084699 | chr8:63225733-63225734 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs528210086 | chr8:63225802-63225803 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs57423424 | chr8:63225848-63225849 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs568040300 | chr8:63225867-63225868 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs139769294 | chr8:63225876-63225877 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs530587094 | chr8:63225897-63225898 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs550267874 | chr8:63225900-63225901 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs202137261 | chr8:63225932-63225933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs550681282 | chr8:63225998-63225999 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs78787775 | chr8:63226007-63226008 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs576444438 | chr8:63226009-63226010 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs185256867 | chr8:63226091-63226092 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs190739650 | chr8:63226093-63226094 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs35649814 | chr8:63226121-63226122 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs144361783 | chr8:63226128-63226129 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs534107430 | chr8:63226144-63226145 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs563936804 | chr8:63226174-63226175 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs555489646 | chr8:63226175-63226176 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs574041741 | chr8:63226177-63226178 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs181530778 | chr8:63226180-63226181 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs80225632 | chr8:63226202-63226203 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs575513407 | chr8:63226236-63226237 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs186255737 | chr8:63226264-63226265 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs146609023 | chr8:63226292-63226293 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs557636269 | chr8:63226312-63226313 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs140964902 | chr8:63226325-63226326 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs75960455 | chr8:63226346-63226347 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs529454726 | chr8:63226376-63226377 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs528935777 | chr8:63226417-63226418 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs73683094 | chr8:63226466-63226467 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
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 |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Disorders of sex development | 21048976 | 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 |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | CNVD |
abnormal development | 18461090 | CNVD |
Cancer | 20164920 | 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 |
Salivary gland tumor | 18059337 | 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 |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | 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 |
Colorectal cancer | 16272173 | CNVD |
Melanoma | 22183965 | 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 |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Colorectal cancer | 21645411 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:63225200-63225600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
2 | chr8:63225200-63227000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr8:63225600-63234400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |