Variant report
Variant | esv15204 |
---|---|
Chromosome Location | chr20:24234682-24236680 |
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 | rs371697479 | chr20:24234707-24234708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs146578837 | chr20:24234802-24234803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558434463 | chr20:24234815-24234816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs76107340 | chr20:24234825-24234826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs544078064 | chr20:24234826-24234827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs6083465 | chr20:24234863-24234864 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs190813000 | chr20:24234900-24234901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs6083466 | chr20:24234903-24234904 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs559699195 | chr20:24234911-24234912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs6049550 | chr20:24234917-24234918 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs181716962 | chr20:24234932-24234933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs151309509 | chr20:24234948-24234949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs140539513 | chr20:24234960-24234961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs150495697 | chr20:24234967-24234968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs568010009 | chr20:24235072-24235073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs145384731 | chr20:24235098-24235099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs546238184 | chr20:24235112-24235113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs566479305 | chr20:24235130-24235131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs185839333 | chr20:24235177-24235178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs6138251 | chr20:24235195-24235196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs191447004 | chr20:24235202-24235203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs141129635 | chr20:24235206-24235207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs146923270 | chr20:24235255-24235256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs554439690 | chr20:24235260-24235261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs566067499 | chr20:24235271-24235272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs57557589 | chr20:24235292-24235293 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs540143756 | chr20:24235411-24235412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs553056191 | chr20:24235412-24235413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs573209613 | chr20:24235425-24235426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs545157855 | chr20:24235431-24235432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs182773509 | chr20:24235436-24235437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs551020281 | chr20:24235456-24235457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs189329669 | chr20:24235473-24235474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369210951 | chr20:24235494-24235495 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs531127117 | chr20:24235529-24235530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs224794 | chr20:24235560-24235561 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs561475678 | chr20:24235606-24235607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs187947080 | chr20:24235666-24235667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs535758977 | chr20:24235679-24235680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs571012200 | chr20:24235683-24235684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs56166503 | chr20:24235703-24235704 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs190637601 | chr20:24235722-24235723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs182234527 | chr20:24235761-24235762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs6049551 | chr20:24235774-24235775 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs537548433 | chr20:24235853-24235854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs554300560 | chr20:24235886-24235887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs187999165 | chr20:24235889-24235890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs114449622 | chr20:24235914-24235915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs77912635 | chr20:24235924-24235925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs116827875 | chr20:24235944-24235945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 16272173 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 19627613 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 20729466 | 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 |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Alagille syndrome | 17576883 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Prostate cancer | 18632612 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Cancer | 21183584 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Breast cancer | 16608533 | CNVD |
Bladder cancer | 21909424 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Breast cancer | 17133270 | CNVD |
Thrombophilia | 17576883 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Mental retardation | 21062444 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Chordoma | 18071362 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:24229800-24237200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |