Variant report
Variant | esv3378637 |
---|---|
Chromosome Location | chr20:41037338-41040536 |
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 | rs528698171 | chr20:41037343-41037344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs192548646 | chr20:41037350-41037351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs541050510 | chr20:41037367-41037368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs112250529 | chr20:41037386-41037387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs550334529 | chr20:41037394-41037395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs188859222 | chr20:41037395-41037396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs2425496 | chr20:41037403-41037404 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs192114577 | chr20:41037417-41037418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs562306893 | chr20:41037454-41037455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs6016782 | chr20:41037519-41037520 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs529485312 | chr20:41037520-41037521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs3091840 | chr20:41037521-41037522 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs138579400 | chr20:41037534-41037535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs184662004 | chr20:41037542-41037543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs537435094 | chr20:41037555-41037556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs557039287 | chr20:41037562-41037563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs534219520 | chr20:41037587-41037588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs189359702 | chr20:41037592-41037593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs142119132 | chr20:41037599-41037600 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs563208155 | chr20:41037648-41037649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs79232566 | chr20:41037677-41037678 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs6093637 | chr20:41037724-41037725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs6093638 | chr20:41037763-41037764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs553512183 | chr20:41037765-41037766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs375812806 | chr20:41037777-41037778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs6093639 | chr20:41037811-41037812 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs145494171 | chr20:41037893-41037894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs182452930 | chr20:41037899-41037900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs558551607 | chr20:41037919-41037920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs76772651 | chr20:41037947-41037948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs76615891 | chr20:41037953-41037954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs6124453 | chr20:41037966-41037967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs6072730 | chr20:41037979-41037980 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs185791178 | chr20:41037992-41037993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs563711847 | chr20:41038070-41038071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs532770187 | chr20:41038076-41038077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs143444047 | chr20:41038084-41038085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs549634425 | chr20:41038122-41038123 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs59040679 | chr20:41038136-41038137 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs11905087 | chr20:41038158-41038159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs566110599 | chr20:41038168-41038169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs527419290 | chr20:41038181-41038182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs138499411 | chr20:41038210-41038211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs548937245 | chr20:41038244-41038245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs548660953 | chr20:41038250-41038251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs189470312 | chr20:41038269-41038270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs181077703 | chr20:41038289-41038290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs77499514 | chr20:41038320-41038321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs551792562 | chr20:41038321-41038322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185441100 | chr20:41038420-41038421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Gastric cancer | 17908304 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Autism | 22495311 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 21693616 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
colon cancer | 17210682 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 21264507 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Gastric cancer | 17167181 | CNVD |
Myeloproliferative neoplasm | 19047681 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Bladder cancer | 21909424 | CNVD |
Breast cancer | 17603634 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 16608533 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Breast cancer | 21364760 | CNVD |
Lung cancer | 18438408 | CNVD |
Prostate cancer | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17133270 | CNVD |
Oral cancer | 21386901 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Ovarian cancer | 19193619 | CNVD |
Breast cancer | 21785460 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Myelodysplastic syndrome | 17634407 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Prostate cancer | 18632612 | CNVD |
Gastric cancer | 22539939 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cervical cancer | 16585170 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Infertility | 21528002 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Gastric cancer | 16891809 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Malignant melanoma | 17260012 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Colorectal cancer | 16774939 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:41022400-41039400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
2 | chr20:41039600-41040200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |