Variant report
Variant | nsv2672 |
---|---|
Chromosome Location | chr2:34774782-34818927 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:10)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:5 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:34237506..34238447-chr2:34795265..34796658,5 | MCF-7 | breast: | |
2 | chr2:33906151..33906814-chr2:34795262..34796206,5 | MCF-7 | breast: | |
3 | chr2:34237681..34238401-chr2:34795339..34796232,5 | MCF-7 | breast: | |
4 | chr2:34795663..34796225-chr8:85142407..85143298,2 | MCF-7 | breast: | |
5 | chr2:34321381..34322557-chr2:34795669..34796275,5 | MCF-7 | breast: |
(count:10 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RASGRP3-14 | chr2:34789044-34789084 | l_1807_chr2:34789043-34803561_liver |
2 | lnc-RASGRP3-14 | chr2:34800570-34803561 | l_1807_chr2:34789043-34803561_liver |
3 | lnc-RASGRP3-14 | chr2:34792147-34792344 | l_1807_chr2:34789043-34803561_liver |
4 | lnc-RASGRP3-14 | chr2:34815892-34816802 | NONHSAT070039 |
5 | lnc-RASGRP3-14 | chr2:34792161-34792344 | NONHSAT070039 |
6 | lnc-RASGRP3-14 | chr2:34815937-34816109 | l_1807_chr2:34789043-34803561_liver |
7 | lnc-RASGRP3-14 | chr2:34811019-34811128 | NONHSAT070039 |
8 | lnc-RASGRP3-14 | chr2:34800570-34801134 | NONHSAT070037 |
9 | lnc-RASGRP3-14 | chr2:34792150-34792344 | NONHSAT070037 |
10 | lnc-FAM98A-7 | chr2:34787656-34787849 | NONHSAT070038 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs142600829 | chr2:34774782-34774783 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs75286035 | chr2:34774792-34774793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs80173539 | chr2:34774823-34774824 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs530698792 | chr2:34774867-34774868 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs550897028 | chr2:34774877-34774878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs180722725 | chr2:34774925-34774926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs76953527 | chr2:34774946-34774947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs186498691 | chr2:34774952-34774953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs374768512 | chr2:34774962-34774963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs55745713 | chr2:34774990-34774991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs189764872 | chr2:34774991-34774992 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs181894811 | chr2:34775014-34775015 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs371850173 | chr2:34775033-34775034 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375194353 | chr2:34775040-34775041 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs548632331 | chr2:34775065-34775066 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs568336609 | chr2:34775089-34775090 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs537198475 | chr2:34775109-34775110 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs557238431 | chr2:34775111-34775112 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs572437641 | chr2:34775124-34775125 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs577515866 | chr2:34775134-34775135 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs540106559 | chr2:34775135-34775136 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs553127966 | chr2:34775139-34775140 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs374012961 | chr2:34775226-34775227 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs368099275 | chr2:34775253-34775254 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs573158660 | chr2:34775271-34775272 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs541981360 | chr2:34775292-34775293 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs562118040 | chr2:34775303-34775304 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs186926489 | chr2:34775315-34775316 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs72790805 | chr2:34775320-34775321 | Flanking Active TSS Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs564270040 | chr2:34775333-34775334 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs370164005 | chr2:34775335-34775336 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs376346626 | chr2:34775336-34775337 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs201207462 | chr2:34775359-34775360 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs202128337 | chr2:34775361-34775362 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs373606815 | chr2:34775379-34775380 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs10190683 | chr2:34775394-34775395 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs7567976 | chr2:34787695-34787696 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs530653141 | chr2:34787704-34787705 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs550216947 | chr2:34787711-34787712 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
40 | rs72872038 | chr2:34787720-34787721 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
41 | rs532611457 | chr2:34787734-34787735 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs552353498 | chr2:34787739-34787740 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
43 | rs370719941 | chr2:34787779-34787780 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
44 | rs566387894 | chr2:34787795-34787796 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs540006666 | chr2:34787797-34787798 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
46 | rs368495608 | chr2:34787806-34787807 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
47 | rs543770402 | chr2:34787814-34787815 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs533470461 | chr2:34789048-34789049 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs13395381 | chr2:34792148-34792149 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs145858429 | chr2:34792169-34792170 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17393978 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Breast cancer | 17603634 | CNVD |
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 |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Prostate cancer | 18632612 | CNVD |
Bladder cancer | 21909424 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Leukemia | 18628472 | CNVD |
Autism | 19521722 | CNVD |
Autism | 18522746 | CNVD |
Breast cancer | 21364760 | CNVD |
Wilms tumour | 21544195 | CNVD |
Non-small cell lung cancer | 18927303 | CNVD |
Hereditary gingival fibromatosis | 19633868 | CNVD |
Breast cancer | 21785460 | CNVD |
Lung cancer | 18438408 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 21045282 | CNVD |
Prostate cancer | 21965145 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21508638 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Neurocytoma | 17123091 | CNVD |
Autism | 22495309 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:34774000-34775000 | Enhancers | NHEK | skin |
2 | chr2:34774200-34775400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
3 | chr2:34774200-34775400 | Enhancers | HMEC | breast |
4 | chr2:34774400-34775000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
5 | chr2:34775000-34775400 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
6 | chr2:34775000-34775400 | Flanking Active TSS | NHEK | skin |
7 | chr2:34792200-34792600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
8 | chr2:34809400-34810200 | Enhancers | Fetal Lung | lung |