Variant report
Variant | nsv967768 |
---|---|
Chromosome Location | chr4:85166717-85168211 |
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 | rs530055554 | chr4:85166729-85166730 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs548834329 | chr4:85166768-85166769 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs570288888 | chr4:85166771-85166772 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs546090988 | chr4:85166773-85166774 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs552400779 | chr4:85166791-85166792 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs187189849 | chr4:85166804-85166805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs190079940 | chr4:85166841-85166842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs140416049 | chr4:85166858-85166859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs565644217 | chr4:85166950-85166951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs149711148 | chr4:85167010-85167011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs554832338 | chr4:85167014-85167015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs576297484 | chr4:85167172-85167173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs115137623 | chr4:85167275-85167276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs72951497 | chr4:85167283-85167284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs577121190 | chr4:85167293-85167294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs541502255 | chr4:85167294-85167295 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs148898843 | chr4:85167352-85167353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs28394162 | chr4:85167406-85167407 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs143623752 | chr4:85167434-85167435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs564006210 | chr4:85167442-85167443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs531063830 | chr4:85167450-85167451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs181784578 | chr4:85167469-85167470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs146785800 | chr4:85167474-85167475 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs140462273 | chr4:85167482-85167483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs541448633 | chr4:85167483-85167484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs547448809 | chr4:85167500-85167501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs565669870 | chr4:85167516-85167517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs561866053 | chr4:85167524-85167525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs536232667 | chr4:85167527-85167528 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs547920819 | chr4:85167548-85167549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs569668542 | chr4:85167664-85167665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs112691617 | chr4:85167674-85167675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs145643915 | chr4:85167706-85167707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs186390392 | chr4:85167748-85167749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs577083404 | chr4:85167785-85167786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs148599425 | chr4:85167794-85167795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs191289487 | chr4:85167817-85167818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs182139116 | chr4:85167869-85167870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs377088961 | chr4:85167900-85167901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs185220602 | chr4:85167947-85167948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs542312499 | chr4:85167961-85167962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs546796689 | chr4:85167962-85167963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs538382398 | chr4:85167990-85167991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs76618339 | chr4:85167998-85167999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs563495346 | chr4:85168016-85168017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs141903557 | chr4:85168056-85168057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs546063590 | chr4:85168057-85168058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs564470791 | chr4:85168067-85168068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs115762370 | chr4:85168114-85168115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs190888918 | chr4:85168151-85168152 | 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 |
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 |
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 |
Prostate cancer | 16573809 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17133270 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:85157600-85171000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
2 | chr4:85166600-85166800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr4:85166800-85173000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |