Variant report
Variant | nsv946385 |
---|---|
Chromosome Location | chr1:150875504-150878115 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
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No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:150877469..150879238-chr1:150945811..150948116,2 | MCF-7 | breast: | |
2 | chr1:150867829..150869388-chr1:150873614..150875595,2 | MCF-7 | breast: | |
3 | chr1:150849390..150851277-chr1:150877417..150879109,2 | MCF-7 | breast: | |
4 | chr1:150877283..150879552-chr1:150896139..150898336,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CYCSP51 | TF binding region |
ENSG00000143418 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs587702530 | chr1:150875526-150875527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs34814318 | chr1:150875534-150875535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs143564815 | chr1:150875541-150875542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs376986112 | chr1:150875591-150875592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs587634051 | chr1:150875775-150875776 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs148027055 | chr1:150875780-150875781 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs113728884 | chr1:150875797-150875798 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs193283207 | chr1:150875813-150875814 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs185504742 | chr1:150875825-150875826 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs374585047 | chr1:150875856-150875857 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs587699959 | chr1:150875929-150875930 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs587763649 | chr1:150875942-150875943 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs587633307 | chr1:150875954-150875955 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs486836 | chr1:150875967-150875968 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
15 | rs587593945 | chr1:150876081-150876082 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs141690952 | chr1:150876099-150876100 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs34646345 | chr1:150876106-150876107 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs587725447 | chr1:150876117-150876118 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs587623218 | chr1:150876158-150876159 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs188453206 | chr1:150876164-150876165 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs587721769 | chr1:150876272-150876273 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs587602315 | chr1:150876279-150876280 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs55874042 | chr1:150876343-150876344 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs180881387 | chr1:150876350-150876351 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs587733256 | chr1:150876504-150876505 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs373595800 | chr1:150876545-150876546 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs587624994 | chr1:150876566-150876567 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs587665146 | chr1:150876625-150876626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs587745073 | chr1:150876650-150876651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs587628582 | chr1:150876658-150876659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs56153706 | chr1:150876676-150876677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs587687545 | chr1:150876693-150876694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs587758693 | chr1:150876701-150876702 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs587617640 | chr1:150876711-150876712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs587689208 | chr1:150876745-150876746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs587751123 | chr1:150876768-150876769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs376560126 | chr1:150876855-150876856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs185129092 | chr1:150876871-150876872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs587725725 | chr1:150876925-150876926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs113827192 | chr1:150876936-150876937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs587666506 | chr1:150876982-150876983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs587723224 | chr1:150876983-150876984 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs587599467 | chr1:150877004-150877005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs138663779 | chr1:150877037-150877038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs188717010 | chr1:150877042-150877043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs74600047 | chr1:150877169-150877170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs78189536 | chr1:150877170-150877171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs181156946 | chr1:150877174-150877175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs587665385 | chr1:150877204-150877205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs187057801 | chr1:150877219-150877220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | 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 |
Ewing''s sarcoma | 21437220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20409316 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Lung cancer | 18438408 | CNVD |
Rett syndrome | 21593744 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 17899364 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21611746 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Osteosarcoma | 17242211 | CNVD |
Ovarian cancer | 17242211 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Schizophrenia | 18990708 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Plasma-cell dyscrasia | 16705089 | CNVD |
Myeloma | 17024118 | CNVD |
Cancer | 17060936 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Type 2 diabetes | 19141583 | CNVD |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Breast cancer | 21509527 | CNVD |
Bladder cancer | 21909424 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Gastrointestinal cancer | 16790693 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:150875200-150875600 | Weak transcription | Placenta | Placenta |
2 | chr1:150875400-150879000 | Weak transcription | Placenta Amnion | Placenta Amnion |
3 | chr1:150875600-150876600 | Enhancers | Placenta | Placenta |
4 | chr1:150876600-150877800 | Weak transcription | Placenta | Placenta |
5 | chr1:150877800-150879400 | Enhancers | Placenta | Placenta |