Variant report
Variant | nsv945545 |
---|---|
Chromosome Location | chr1:196121983-196147137 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:196117077..196119162-chr1:196122659..196124600,2 | K562 | blood: | |
2 | chr1:196138443..196141334-chr1:196141782..196145397,4 | K562 | blood: | |
3 | chr1:196119772..196121474-chr1:196127458..196129985,2 | MCF-7 | breast: | |
4 | chr1:196144873..196146636-chr1:196151703..196153907,2 | K562 | blood: | |
5 | chr1:196138443..196141334-chr1:196141782..196145397,4 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-KCNT2-1 | chr1:196129500-196129619 | XLOC_001138 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs137997492 | chr1:196124802-196124803 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs386638226 | chr1:196124842-196124843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs72748490 | chr1:196124843-196124844 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs12122832 | chr1:196125008-196125009 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs182254645 | chr1:196125009-196125010 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs536996255 | chr1:196125061-196125062 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188068967 | chr1:196125143-196125144 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs149054752 | chr1:196125154-196125155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs371630743 | chr1:196125182-196125183 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs552562035 | chr1:196125218-196125219 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs193011702 | chr1:196125255-196125256 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs528506024 | chr1:196125268-196125269 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs546971510 | chr1:196125297-196125298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs74706029 | chr1:196125320-196125321 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs573813706 | chr1:196125367-196125368 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs548405690 | chr1:196125379-196125380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs569837562 | chr1:196125392-196125393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs143048508 | chr1:196125463-196125464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs558611607 | chr1:196125499-196125500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs185334524 | chr1:196125517-196125518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs188249096 | chr1:196125561-196125562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs573869604 | chr1:196125598-196125599 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs549133743 | chr1:196128012-196128013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs188969814 | chr1:196128024-196128025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs538486965 | chr1:196128043-196128044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs550683723 | chr1:196128063-196128064 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs141415662 | chr1:196128071-196128072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs570852732 | chr1:196128097-196128098 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs142634299 | chr1:196128101-196128102 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs192970952 | chr1:196128108-196128109 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs371552134 | chr1:196128120-196128121 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs538914369 | chr1:196128126-196128127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs150980979 | chr1:196128128-196128129 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs111703094 | chr1:196128168-196128169 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs572077596 | chr1:196128171-196128172 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs553015069 | chr1:196128240-196128241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs536233104 | chr1:196128296-196128297 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs116435078 | chr1:196128317-196128318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs140801011 | chr1:196128377-196128378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs111865995 | chr1:196128407-196128408 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs544437631 | chr1:196128416-196128417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs566376694 | chr1:196128432-196128433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs375525961 | chr1:196128433-196128434 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs35379028 | chr1:196128452-196128453 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs182860727 | chr1:196128533-196128534 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs373351548 | chr1:196128542-196128543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs544946348 | chr1:196128549-196128550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs187186948 | chr1:196128563-196128564 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs527312420 | chr1:196128601-196128602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs542640998 | chr1:196128609-196128610 | Enhancers | 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 |
Autism | 22495311 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | 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 |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | 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 |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 20688739 | CNVD |
Breast cancer | 21611746 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Breast cancer | 17393978 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Mental retardation | 17847001 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Mental retardation | 21062444 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Neuroblastoma | 20406844 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:196124800-196125600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr1:196128000-196129000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
3 | chr1:196128800-196130000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
4 | chr1:196129000-196129200 | Enhancers | Osteobl | bone |
5 | chr1:196129000-196129600 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
6 | chr1:196129000-196130000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr1:196129000-196130000 | Enhancers | NHDF-Ad | bronchial |
8 | chr1:196129000-196130200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr1:196129200-196129600 | Enhancers | NHLF | lung |
10 | chr1:196129200-196129600 | Flanking Active TSS | Osteobl | bone |
11 | chr1:196129200-196130000 | Enhancers | HSMM | muscle |
12 | chr1:196129200-196130000 | Enhancers | NHEK | skin |
13 | chr1:196129200-196130200 | Enhancers | Muscle Satellite Cultured Cells | -- |
14 | chr1:196129400-196129800 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
15 | chr1:196129400-196130000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
16 | chr1:196129400-196130000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
17 | chr1:196129400-196130200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
18 | chr1:196129400-196130200 | Enhancers | HMEC | breast |
19 | chr1:196129600-196130000 | Enhancers | Osteobl | bone |
20 | chr1:196129600-196130600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
21 | chr1:196141800-196142200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
22 | chr1:196145400-196149800 | Weak transcription | Muscle Satellite Cultured Cells | -- |
23 | chr1:196145800-196146000 | Enhancers | Pancreatic Islets | Pancreatic Islet |