Variant report
Variant | esv3421803 |
---|---|
Chromosome Location | chr4:81425278-81426876 |
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 | rs528529840 | chr4:81425279-81425280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs186932415 | chr4:81425324-81425325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs144526177 | chr4:81425335-81425336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs530928571 | chr4:81425336-81425337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs550587715 | chr4:81425345-81425346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs567586667 | chr4:81425394-81425395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs530350944 | chr4:81425423-81425424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs546747263 | chr4:81425442-81425443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs77646664 | chr4:81425444-81425445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs529461984 | chr4:81425450-81425451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs1908550 | chr4:81425492-81425493 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs565440384 | chr4:81425513-81425514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs551464182 | chr4:81425539-81425540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs551055477 | chr4:81425595-81425596 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs563704248 | chr4:81425657-81425658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs531164000 | chr4:81425659-81425660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs57743936 | chr4:81425660-81425661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs59497228 | chr4:81425688-81425689 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs192245355 | chr4:81425814-81425815 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs554618655 | chr4:81425856-81425857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs574755870 | chr4:81425864-81425865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs540535880 | chr4:81425909-81425910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs12648193 | chr4:81426018-81426019 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs185262194 | chr4:81426137-81426138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs6829720 | chr4:81426172-81426173 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs565356540 | chr4:81426197-81426198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs36059719 | chr4:81426203-81426204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs549250930 | chr4:81426287-81426288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs201027582 | chr4:81426289-81426290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs35406849 | chr4:81426290-81426291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs35402113 | chr4:81426291-81426292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs571478389 | chr4:81426299-81426300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs78286374 | chr4:81426316-81426317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs77866620 | chr4:81426320-81426321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs76746163 | chr4:81426377-81426378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs35049357 | chr4:81426403-81426404 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs190389022 | chr4:81426417-81426418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs567099349 | chr4:81426498-81426499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs532719303 | chr4:81426559-81426560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs201878426 | chr4:81426626-81426627 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs200381567 | chr4:81426627-81426628 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs552533285 | chr4:81426635-81426636 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs568899145 | chr4:81426661-81426662 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs537959906 | chr4:81426701-81426702 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs554557277 | chr4:81426781-81426782 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs568072391 | chr4:81426829-81426830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Parkinson disease | 21956041 | CNVD |
Mental retardation | 20522426 | CNVD |
delayed speech | 20522426 | CNVD |
growth disorder | 20522426 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Parkinson disease | 18923514 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16272173 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 18414403 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Gastric cancer | 16891809 | CNVD |
Prostate cancer | 16573809 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:81417600-81428800 | Weak transcription | NHDF-Ad | bronchial |
2 | chr4:81422400-81429800 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
3 | chr4:81423200-81428800 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
4 | chr4:81424000-81429800 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
5 | chr4:81424200-81426600 | Weak transcription | Primary T killer naive cells fromperipheralblood | blood |
6 | chr4:81424200-81427600 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
7 | chr4:81424200-81429800 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
8 | chr4:81424200-81430200 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
9 | chr4:81424400-81427800 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
10 | chr4:81424600-81427600 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
11 | chr4:81424600-81427800 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
12 | chr4:81424600-81428200 | Weak transcription | Primary T helper 17 cells PMA-I stimulated | -- |
13 | chr4:81426600-81426800 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
14 | chr4:81426800-81427400 | Weak transcription | Primary T killer naive cells fromperipheralblood | blood |