Variant report
Variant | nsv535731 |
---|---|
Chromosome Location | chr2:57486767-57562111 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:4)
- 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 | chr2:57486573..57488689-chr2:57490397..57492047,2 | K562 | blood: | |
2 | chr12:89748263..89749241-chr2:57525429..57526152,2 | MCF-7 | breast: | |
3 | chr2:57540667..57542939-chr2:57544069..57546908,2 | K562 | blood: | |
4 | chr2:57540667..57542939-chr2:57544069..57546908,2 | K562 | blood: | |
5 | chr2:56412160..56413674-chr2:57559267..57562168,2 | MCF-7 | breast: | |
6 | chr2:57486573..57488689-chr2:57490397..57492047,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FANCL-2 | chr2:57541337-57541655 | NONHSAT070831 |
2 | lnc-FANCL-2 | chr2:57541338-57541655 | XLOC_002102 |
3 | lnc-FANCL-2 | chr2:57542598-57542640 | NONHSAT070831 |
4 | lnc-FANCL-2 | chr2:57542599-57542640 | XLOC_002102 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000233251 | chromatin interactions |
SPRY4 | miRNA target sites |
TSC1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs567439752 | chr2:57504222-57504223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs114037850 | chr2:57504278-57504279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs545388327 | chr2:57504281-57504282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs559015261 | chr2:57504288-57504289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs572261114 | chr2:57504292-57504293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs541858788 | chr2:57504296-57504297 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs201491577 | chr2:57504309-57504310 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs540978968 | chr2:57504347-57504348 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs561127683 | chr2:57504379-57504380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs75947435 | chr2:57504390-57504391 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs543483840 | chr2:57504417-57504418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs563079332 | chr2:57504466-57504467 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs532098504 | chr2:57504467-57504468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs141599402 | chr2:57504476-57504477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs556035492 | chr2:57504491-57504492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs114931412 | chr2:57504497-57504498 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs145895964 | chr2:57504504-57504505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs138455951 | chr2:57504505-57504506 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs117088166 | chr2:57504514-57504515 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs536478890 | chr2:57504524-57504525 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs556809928 | chr2:57504547-57504548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs570139069 | chr2:57504554-57504555 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs142972131 | chr2:57504555-57504556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs558954169 | chr2:57504556-57504557 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs569851547 | chr2:57504596-57504597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs79933056 | chr2:57504627-57504628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs146113988 | chr2:57504658-57504659 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs567353444 | chr2:57504700-57504701 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs115147755 | chr2:57504809-57504810 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs554596537 | chr2:57504826-57504827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs58337425 | chr2:57504838-57504839 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs114070744 | chr2:57504850-57504851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs72939710 | chr2:57504854-57504855 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs532037031 | chr2:57504867-57504868 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs545533581 | chr2:57504893-57504894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs79768018 | chr2:57504896-57504897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs528100882 | chr2:57504908-57504909 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs185757350 | chr2:57504912-57504913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs75907195 | chr2:57504930-57504931 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs530447120 | chr2:57504952-57504953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs368210057 | chr2:57504976-57504977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs570274658 | chr2:57505001-57505002 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs149480552 | chr2:57505011-57505012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs552752036 | chr2:57505029-57505030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs566043853 | chr2:57505055-57505056 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs190566355 | chr2:57505072-57505073 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs554966250 | chr2:57505103-57505104 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs571858828 | chr2:57505105-57505106 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs183097070 | chr2:57505111-57505112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs34393237 | chr2:57505137-57505138 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Adrenal tumor | 17535989 | CNVD |
Breast cancer | 21264507 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Medulloblastoma | 17522785 | CNVD |
Cancer | 23418310 | CNVD |
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Leukemia | 18628472 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Breast cancer | 21785460 | CNVD |
Lung cancer | 18438408 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21508638 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 16272173 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Ovarian cancer | 21720365 | CNVD |
abnormal development | 18461090 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16397240 | CNVD |
Chronic lymphocytic leukemia | 17053054 | CNVD |
Hereditary non-polyposis colorectal cancer | 19566914 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Mental retardation | 19951919 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Microcephaly | 20799320 | CNVD |
camptodactyly | 20799320 | CNVD |
cognitive delay | 20799320 | CNVD |
prenatal and postnatal growth deficiency | 20799320 | CNVD |
ptosis of eyelids | 20799320 | CNVD |
Maculopathy | 20981449 | CNVD |
2p16.1 microdeletion syndrome | 22283845 | CNVD |
Autism | 22579565 | CNVD |
Autism | 16963482 | CNVD |
Autism | 21750575 | CNVD |
idiopathic intellectual disability | 16963482 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:57504200-57507400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr2:57505000-57505400 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr2:57513600-57514000 | Active TSS | A549 | lung |
4 | chr2:57518600-57518800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr2:57518600-57518800 | Enhancers | Pancreas | Pancrea |
6 | chr2:57519400-57519600 | Enhancers | Pancreas | Pancrea |
7 | chr2:57539200-57539400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr2:57539400-57540400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
9 | chr2:57540400-57541200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
10 | chr2:57540400-57541200 | Enhancers | HMEC | breast |
11 | chr2:57540400-57542800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
12 | chr2:57540600-57541200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
13 | chr2:57557200-57557400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
14 | chr2:57557200-57558200 | Enhancers | Fetal Heart | heart |
15 | chr2:57557400-57558400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
16 | chr2:57557600-57558200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
17 | chr2:57557600-57558200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
18 | chr2:57557600-57558200 | Enhancers | NHEK | skin |
19 | chr2:57557600-57558400 | Enhancers | HSMM | muscle |
20 | chr2:57558200-57559800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
21 | chr2:57558400-57558800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
22 | chr2:57559600-57560200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
23 | chr2:57559800-57560000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |