Variant report
Variant | esv3422552 |
---|---|
Chromosome Location | chr3:120678662-120682860 |
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 | rs182917762 | chr3:120679207-120679208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs569503969 | chr3:120679240-120679241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs147707277 | chr3:120679242-120679243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs557138562 | chr3:120679249-120679250 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs573629878 | chr3:120679252-120679253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs570986492 | chr3:120679261-120679262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188815641 | chr3:120679265-120679266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs547359371 | chr3:120679276-120679277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs148748912 | chr3:120679289-120679290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs142306664 | chr3:120679307-120679308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs9833801 | chr3:120679333-120679334 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs564729440 | chr3:120679337-120679338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs530664727 | chr3:120679377-120679378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs544253767 | chr3:120679387-120679388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs561056703 | chr3:120679402-120679403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs140445750 | chr3:120679418-120679419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs192912318 | chr3:120679448-120679449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs566784127 | chr3:120679460-120679461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs532822806 | chr3:120679501-120679502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs552633035 | chr3:120679523-120679524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs144925781 | chr3:120679524-120679525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs538442564 | chr3:120679525-120679526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs146760050 | chr3:120679526-120679527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs184203209 | chr3:120679541-120679542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs535844644 | chr3:120679551-120679552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs9872110 | chr3:120679554-120679555 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs572792531 | chr3:120679600-120679601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs538921922 | chr3:120679614-120679615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs189386701 | chr3:120679620-120679621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs145476321 | chr3:120679621-120679622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs368764363 | chr3:120679648-120679649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs572487754 | chr3:120679662-120679663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs561021511 | chr3:120679705-120679706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs201421189 | chr3:120679709-120679710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs200355679 | chr3:120679713-120679714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs574856794 | chr3:120679716-120679717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs138016472 | chr3:120679731-120679732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs200429145 | chr3:120679756-120679757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs75231525 | chr3:120679757-120679758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs374165315 | chr3:120679778-120679779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs574696247 | chr3:120679808-120679809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs552791583 | chr3:120679821-120679822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs543808718 | chr3:120679827-120679828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs532445074 | chr3:120679857-120679858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs61797910 | chr3:120679871-120679872 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs149493255 | chr3:120679915-120679916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs532689721 | chr3:120679926-120679927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs111961427 | chr3:120679930-120679931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs545971609 | chr3:120679959-120679960 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs77806511 | chr3:120679966-120679967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
microdeletion syndrome | 22180640 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 16608533 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Developmental delay | 22180640 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Ovarian cancer | 22174824 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Autism | 22241247 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:120679200-120681600 | Weak transcription | Brain Angular Gyrus | brain |