Variant report
Variant | nsv968001 |
---|---|
Chromosome Location | chr4:81734708-81739912 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs537761234 | chr4:81735260-81735261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs141052553 | chr4:81735272-81735273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs34608255 | chr4:81735284-81735285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs568187377 | chr4:81735407-81735408 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs182019329 | chr4:81735408-81735409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs553538799 | chr4:81735421-81735422 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs566850749 | chr4:81735492-81735493 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs76683560 | chr4:81735506-81735507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs539083149 | chr4:81735525-81735526 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs150238057 | chr4:81735576-81735577 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs78654070 | chr4:81735600-81735601 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs374964348 | chr4:81735621-81735622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs544600558 | chr4:81735640-81735641 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs555111295 | chr4:81735649-81735650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs150187474 | chr4:81735686-81735687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs138811550 | chr4:81735698-81735699 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs534142800 | chr4:81735699-81735700 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs186160967 | chr4:81735723-81735724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs190771195 | chr4:81735739-81735740 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs549291057 | chr4:81735769-81735770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs530353597 | chr4:81735874-81735875 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370610064 | chr4:81735908-81735909 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs35093266 | chr4:81735922-81735923 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs182904384 | chr4:81735938-81735939 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs576111335 | chr4:81735949-81735950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs112143084 | chr4:81735963-81735964 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs2047039 | chr4:81735968-81735969 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs373467229 | chr4:81735985-81735986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs72881504 | chr4:81736012-81736013 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs567013626 | chr4:81736067-81736068 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs72881505 | chr4:81736070-81736071 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs558881961 | chr4:81736099-81736100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs77520937 | chr4:81736104-81736105 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs538512604 | chr4:81736183-81736184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs554991796 | chr4:81736189-81736190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs79515596 | chr4:81736193-81736194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs574688837 | chr4:81736239-81736240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs564355111 | chr4:81736244-81736245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs138293815 | chr4:81736282-81736283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs532976820 | chr4:81736308-81736309 | Enhancers | 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 | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:81735200-81735600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
2 | chr4:81735200-81736200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
3 | chr4:81735200-81736400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
4 | chr4:81735400-81735800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
5 | chr4:81735400-81736200 | Enhancers | H9 Cell Line | embryonic stem cell |
6 | chr4:81735400-81736200 | Enhancers | NHDF-Ad | bronchial |