Variant report
Variant | nsv946178 |
---|---|
Chromosome Location | chr1:120005218-120007180 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | FOS | chr1:120005677-120005760 | MCF10A-Er-Src | breast: | n/a | n/a |
2 | FOS | chr1:120005664-120005894 | MCF10A-Er-Src | breast: | n/a | chr1:120005784-120005794 chr1:120005785-120005793 chr1:120005784-120005794 chr1:120005784-120005794 chr1:120005784-120005794 |
3 | FOS | chr1:120005740-120005942 | MCF10A-Er-Src | breast: | n/a | chr1:120005784-120005794 chr1:120005785-120005793 chr1:120005784-120005794 chr1:120005784-120005794 chr1:120005784-120005794 |
4 | RFX5 | chr1:120006192-120006547 | GM12878 | blood: | n/a | n/a |
5 | SPI1 | chr1:120006314-120006617 | GM12891 | blood: | n/a | n/a |
6 | SPI1 | chr1:120006286-120006576 | GM12891 | blood: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
HSD3BP1 | TF binding region |
GAPDHP23 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs201794580 | chr1:120005220-120005221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs587706695 | chr1:120005235-120005236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs587601831 | chr1:120005247-120005248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs587638177 | chr1:120005314-120005315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs140025222 | chr1:120005347-120005348 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs587595214 | chr1:120005354-120005355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs587679847 | chr1:120005362-120005363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs587738721 | chr1:120005472-120005473 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs114342108 | chr1:120005490-120005491 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs375512530 | chr1:120005537-120005538 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs72992970 | chr1:120005544-120005545 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs141952111 | chr1:120005604-120005605 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs587613401 | chr1:120005616-120005617 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs34680744 | chr1:120005627-120005628 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs371280090 | chr1:120005633-120005634 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs72469586 | chr1:120005634-120005635 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs146404441 | chr1:120005643-120005644 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs112636852 | chr1:120005674-120005675 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs188694176 | chr1:120005675-120005676 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs587637675 | chr1:120005680-120005681 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs373371828 | chr1:120005698-120005699 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs587771510 | chr1:120005718-120005719 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs200193863 | chr1:120005729-120005730 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs375533407 | chr1:120005744-120005745 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs139748963 | chr1:120005760-120005761 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs181384020 | chr1:120005766-120005767 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs59590297 | chr1:120005807-120005808 | Weak transcription Enhancers | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs587716543 | chr1:120005836-120005837 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs185960820 | chr1:120005879-120005880 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs150042970 | chr1:120005891-120005892 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs587607039 | chr1:120005916-120005917 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs587666647 | chr1:120005989-120005990 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs587717996 | chr1:120006033-120006034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs112011108 | chr1:120006034-120006035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs587600725 | chr1:120006037-120006038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs587682738 | chr1:120006121-120006122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs587764369 | chr1:120006245-120006246 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs148760819 | chr1:120006309-120006310 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs587693099 | chr1:120006318-120006319 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs587727186 | chr1:120006333-120006334 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs10923832 | chr1:120006388-120006389 | Weak transcription | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs10802096 | chr1:120006396-120006397 | Weak transcription | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs142567556 | chr1:120006400-120006401 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs147588125 | chr1:120006446-120006447 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs587704108 | chr1:120006497-120006498 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs587759795 | chr1:120006524-120006525 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs114817458 | chr1:120006619-120006620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs142003297 | chr1:120006665-120006666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs587767318 | chr1:120006712-120006713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs386635112 | chr1:120006726-120006727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | 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 |
Glioblastoma multiforme | 21080181 | 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 |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Cancer | 21129771 | CNVD |
Non-small cell lung cancer | 21385341 | 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 |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Aetanephric adenomas | 20802469 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Breast cancer | 21804112 | CNVD |
Mental retardation | 21062444 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Emphysema | 19352772 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21858162 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Cancer | 20164920 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:120003400-120011800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr1:120005400-120005800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr1:120005600-120006000 | Enhancers | HMEC | breast |
4 | chr1:120005600-120006000 | Enhancers | NHEK | skin |
5 | chr1:120005800-120009200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr1:120006000-120007200 | Weak transcription | NHEK | skin |
7 | chr1:120006000-120009400 | Weak transcription | HMEC | breast |