Variant report
Variant | esv12008 |
---|---|
Chromosome Location | chr20:14435333-14437206 |
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 | rs111833167 | chr20:14435352-14435353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs112821013 | chr20:14435376-14435377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs75833837 | chr20:14435395-14435396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs11087091 | chr20:14435416-14435417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs7264094 | chr20:14435419-14435420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs541534479 | chr20:14435425-14435426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs192511053 | chr20:14435450-14435451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs575295264 | chr20:14435487-14435488 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574027903 | chr20:14435491-14435492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs184546928 | chr20:14435492-14435493 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs574849575 | chr20:14435495-14435496 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs542634578 | chr20:14435499-14435500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs532647315 | chr20:14435503-14435504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs559654788 | chr20:14435525-14435526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs552747097 | chr20:14435561-14435562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs7264063 | chr20:14435562-14435563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs142279769 | chr20:14435584-14435585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs528606145 | chr20:14435600-14435601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs188934662 | chr20:14435633-14435634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs181475264 | chr20:14435634-14435635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs186476393 | chr20:14435641-14435642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs550514292 | chr20:14435646-14435647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs570734008 | chr20:14435659-14435660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs146383209 | chr20:14435690-14435691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs573218620 | chr20:14435695-14435696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs189777621 | chr20:14435730-14435731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs572932219 | chr20:14435764-14435765 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs369459079 | chr20:14435765-14435766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs13037191 | chr20:14435786-14435787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs13037192 | chr20:14435788-14435789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs13045714 | chr20:14435818-14435819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs13045733 | chr20:14435859-14435860 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs13037343 | chr20:14435861-14435862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs371636732 | chr20:14435887-14435888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs369934323 | chr20:14435959-14435960 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs6131584 | chr20:14435970-14435971 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs555490215 | chr20:14435975-14435976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs575355452 | chr20:14435988-14435989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs6042738 | chr20:14436013-14436014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs181030197 | chr20:14436021-14436022 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs564027535 | chr20:14436027-14436028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs6042739 | chr20:14436050-14436051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs377659025 | chr20:14436068-14436069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs577480667 | chr20:14436103-14436104 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs138219935 | chr20:14436104-14436105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs141820523 | chr20:14436150-14436151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs185057921 | chr20:14436181-14436182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs6042740 | chr20:14436194-14436195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs548323286 | chr20:14436310-14436311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs561850281 | chr20:14436314-14436315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 16397240 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
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 |
Glaucoma | 21310917 | CNVD |
Alagille syndrome | 22470819 | CNVD |
Lung cancer | 16773561 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Alagille syndrome | 17576883 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Kabuki syndrome | 21720541 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Neurocytoma | 17123091 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Cancer | 20164919 | CNVD |
Multiple sclerosis | 20663923 | CNVD |
Schizophrenia | 20663923 | CNVD |
brain infarct | 20663923 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 17142309 | CNVD |
Cancer | 20164920 | CNVD |
Breast cancer | 21364760 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:14434200-14437400 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |