Variant report
Variant | esv3392567 |
---|---|
Chromosome Location | chr8:52129448-52150617 |
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 | rs532275289 | chr8:52135621-52135622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs181401773 | chr8:52135626-52135627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs369231629 | chr8:52135629-52135630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs186597270 | chr8:52135630-52135631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs61356915 | chr8:52135656-52135657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs527440664 | chr8:52135688-52135689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs545869578 | chr8:52135692-52135693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs563992755 | chr8:52135712-52135713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs372233394 | chr8:52135726-52135727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs56034940 | chr8:52135742-52135743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs114915971 | chr8:52135811-52135812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549322356 | chr8:52135830-52135831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs568023606 | chr8:52135833-52135834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs367630433 | chr8:52135834-52135835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs529141708 | chr8:52135890-52135891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs5891396 | chr8:52135892-52135893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs398007771 | chr8:52135893-52135894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs191961430 | chr8:52135924-52135925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs117757822 | chr8:52135938-52135939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs183810763 | chr8:52135958-52135959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs543145082 | chr8:52135967-52135968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs10088822 | chr8:52135970-52135971 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs10099434 | chr8:52135979-52135980 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs117061644 | chr8:52136017-52136018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs561354562 | chr8:52136022-52136023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs34831143 | chr8:52136024-52136025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs372179126 | chr8:52136048-52136049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs542504661 | chr8:52136079-52136080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs77027132 | chr8:52136096-52136097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs369909511 | chr8:52136097-52136098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs572618740 | chr8:52136129-52136130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs548734731 | chr8:52136172-52136173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs146741148 | chr8:52136194-52136195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369694028 | chr8:52136208-52136209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs563844193 | chr8:52136215-52136216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs531265709 | chr8:52136257-52136258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs373132825 | chr8:52136260-52136261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs543054646 | chr8:52136261-52136262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs140533009 | chr8:52136268-52136269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs529179417 | chr8:52136269-52136270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs547494548 | chr8:52136304-52136305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs186566125 | chr8:52136310-52136311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs189836415 | chr8:52136311-52136312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs570799946 | chr8:52136316-52136317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs551241030 | chr8:52136317-52136318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs570963475 | chr8:52136324-52136325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs538330433 | chr8:52136331-52136332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs34704308 | chr8:52136334-52136335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs556640270 | chr8:52136362-52136363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs568441739 | chr8:52136365-52136366 | Weak transcription | n/a | n/a | Overlapped CNVs | 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 |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Salivary gland tumor | 18059337 | 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 |
abnormal development | 18461090 | CNVD |
Cancer | 20164920 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | 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 |
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 |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:52135600-52138000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr8:52137800-52138000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr8:52138000-52145000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr8:52149600-52150600 | Enhancers | Fetal Brain Male | brain |
5 | chr8:52149800-52150200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
6 | chr8:52149800-52150200 | Enhancers | Fetal Brain Female | brain |
7 | chr8:52149800-52150400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |