Variant report
Variant | nsv881428 |
---|---|
Chromosome Location | chr5:8697444-8715139 |
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 | rs200008 | chr5:8697444-8697445 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs555010113 | chr5:8697522-8697523 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs541648241 | chr5:8697531-8697532 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs574966603 | chr5:8697613-8697614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs553285333 | chr5:8697630-8697631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs543683904 | chr5:8697646-8697647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs563562436 | chr5:8697720-8697721 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs576496037 | chr5:8697739-8697740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs575038331 | chr5:8697744-8697745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs558878891 | chr5:8697813-8697814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs528123184 | chr5:8697828-8697829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs548459070 | chr5:8697861-8697862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs185806402 | chr5:8697882-8697883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs561871825 | chr5:8697918-8697919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs530707954 | chr5:8697923-8697924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs550764548 | chr5:8697961-8697962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs570673898 | chr5:8698020-8698021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs532609962 | chr5:8698043-8698044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs370374200 | chr5:8698065-8698066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs552707024 | chr5:8698073-8698074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs140082625 | chr5:8698111-8698112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs563939549 | chr5:8698139-8698140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs534750153 | chr5:8698150-8698151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs35437450 | chr5:8698160-8698161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs555228076 | chr5:8698163-8698164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs568631611 | chr5:8698216-8698217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs537362650 | chr5:8698244-8698245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs543743670 | chr5:8698269-8698270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs545797325 | chr5:8698296-8698297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs545488509 | chr5:8698298-8698299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs564240760 | chr5:8698304-8698305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs552688060 | chr5:8698315-8698316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs572778535 | chr5:8698321-8698322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs541491552 | chr5:8698322-8698323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs561748814 | chr5:8698358-8698359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs530685069 | chr5:8698360-8698361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs544529992 | chr5:8698365-8698366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs200007 | chr5:8698396-8698397 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs533210534 | chr5:8698408-8698409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs552695131 | chr5:8698419-8698420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs566075588 | chr5:8698422-8698423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs528607936 | chr5:8698433-8698434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs548254401 | chr5:8698479-8698480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs182347712 | chr5:8698567-8698568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs568449845 | chr5:8698584-8698585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs111931935 | chr5:8698623-8698624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs188612171 | chr5:8698639-8698640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs557277039 | chr5:8698645-8698646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs192309022 | chr5:8698646-8698647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs539677125 | chr5:8698648-8698649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Sudden cardiac death | 19188705 | CNVD |
renal disease | 17924346 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
abnormal development | 18461090 | CNVD |
Lung cancer | 19547694 | CNVD |
Cri-du chat syndrome | 22283845 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cancer | 21183584 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 17133270 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Developmental delay | 21147756 | CNVD |
prenatal diagnosis | 22389664 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Breast cancer | 21858162 | CNVD |
Prostate cancer | 18632612 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Melanoma | 22183965 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Autism | 22495311 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 16608533 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Ovarian cancer | 19193619 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Cancer | 22183965 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Intellectual disability | 22102821 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cri-du chat syndrome | 16773131 | CNVD |
Cryptorchidism | 21048976 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Cervical cancer | 16585170 | CNVD |
Mental retardation | 16773131 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Cri-du chat syndrome | 22470819 | CNVD |
sporadic birth defects | 19047251 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:8693000-8697600 | Enhancers | Fetal Lung | lung |
2 | chr5:8696800-8700400 | Weak transcription | Fetal Muscle Leg | muscle |
3 | chr5:8696800-8700800 | Weak transcription | Fetal Stomach | stomach |
4 | chr5:8697600-8699600 | Weak transcription | Fetal Lung | lung |
5 | chr5:8699600-8702200 | Enhancers | Fetal Lung | lung |
6 | chr5:8700000-8701800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
7 | chr5:8700400-8700600 | Enhancers | NHLF | lung |
8 | chr5:8700400-8701600 | Enhancers | Fetal Muscle Leg | muscle |
9 | chr5:8700400-8701600 | Enhancers | Ovary | ovary |
10 | chr5:8700600-8701000 | Active TSS | Rectal Mucosa Donor 29 | rectum |
11 | chr5:8700600-8701000 | Flanking Active TSS | NHLF | lung |
12 | chr5:8700800-8701800 | Enhancers | Fetal Stomach | stomach |
13 | chr5:8701000-8701800 | Enhancers | NHLF | lung |
14 | chr5:8702200-8710600 | Weak transcription | Fetal Lung | lung |
15 | chr5:8710600-8711800 | Enhancers | Fetal Lung | lung |