Variant report
Variant | esv3431294 |
---|---|
Chromosome Location | chr3:21950793-21951171 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs564742029 | chr3:21950798-21950799 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs144538108 | chr3:21950803-21950804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs547775684 | chr3:21950806-21950807 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs73820187 | chr3:21950812-21950813 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs184143131 | chr3:21950831-21950832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs188498503 | chr3:21950847-21950848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs570188563 | chr3:21950907-21950908 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs537168273 | chr3:21950917-21950918 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs113690164 | chr3:21950926-21950927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs570769967 | chr3:21950928-21950929 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs534972500 | chr3:21950933-21950934 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs181575166 | chr3:21950936-21950937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs141553982 | chr3:21950937-21950938 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs542449014 | chr3:21950949-21950950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs149997719 | chr3:21950977-21950978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs627341 | chr3:21951024-21951025 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
17 | rs543161880 | chr3:21951055-21951056 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs564947277 | chr3:21951066-21951067 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs142461159 | chr3:21951075-21951076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs199852867 | chr3:21951077-21951078 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs185094449 | chr3:21951080-21951081 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190468936 | chr3:21951094-21951095 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs560121767 | chr3:21951111-21951112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs570751226 | chr3:21951141-21951142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs78083798 | chr3:21951159-21951160 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Neuroblastoma | 17327916 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 21062161 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Intellectual disability | 22102821 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Breast cancer | 17133270 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Melanoma | 20688739 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:21950000-21950800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
2 | chr3:21950600-21951400 | Enhancers | Fetal Lung | lung |