Variant report
Variant | esv3332674 |
---|---|
Chromosome Location | chr1:78838232-78838727 |
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 | rs182580079 | chr1:78838234-78838235 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs533040411 | chr1:78838235-78838236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544419641 | chr1:78838268-78838269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs187269290 | chr1:78838360-78838361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs190401172 | chr1:78838373-78838374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs111966715 | chr1:78838407-78838408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs568388409 | chr1:78838411-78838412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs535862666 | chr1:78838413-78838414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs138880493 | chr1:78838422-78838423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs182998768 | chr1:78838477-78838478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs539698550 | chr1:78838483-78838484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs558430848 | chr1:78838503-78838504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs539267997 | chr1:78838504-78838505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs576694742 | chr1:78838505-78838506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs78815540 | chr1:78838573-78838574 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs74091424 | chr1:78838613-78838614 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs187720200 | chr1:78838618-78838619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs372959271 | chr1:78838628-78838629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs560990799 | chr1:78838635-78838636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs559043037 | chr1:78838673-78838674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs577919751 | chr1:78838678-78838679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs544890141 | chr1:78838714-78838715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Melanoma | 17363583 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16608533 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 17133270 | CNVD |
Type 2 diabetes | 21956041 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Poland''s syndrome | 22110015 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Cancer | 22429812 | CNVD |
Effusion lymphoma | 18079361 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Schizophrenia | 23813976 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:78837000-78842400 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
2 | chr1:78837400-78841200 | Weak transcription | Osteobl | bone |
3 | chr1:78837600-78840000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
4 | chr1:78837600-78840800 | Weak transcription | NHDF-Ad | bronchial |
5 | chr1:78837600-78841200 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
6 | chr1:78837600-78841400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr1:78837800-78841200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
8 | chr1:78837800-78841600 | Weak transcription | Muscle Satellite Cultured Cells | -- |