Variant report

Variant	nsv546580
Chromosome Location	chr1:75282264-75302447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75291356..75293421-chr1:75294072..75296682,2	K562	blood:
2	chr1:75291356..75293421-chr1:75294072..75296682,2	K562	blood:

Extended variants
information (count: 395 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557398010	chr1:75284000-75284001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575639689	chr1:75284051-75284052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12725122	chr1:75284150-75284151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542964664	chr1:75284159-75284160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371272053	chr1:75284167-75284168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573868709	chr1:75284168-75284169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527739047	chr1:75284192-75284193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559522682	chr1:75284250-75284251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547861799	chr1:75284310-75284311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148279617	chr1:75284322-75284323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545531601	chr1:75284324-75284325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563725610	chr1:75284334-75284335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186991407	chr1:75284388-75284389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549389982	chr1:75284405-75284406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564793444	chr1:75284406-75284407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567897308	chr1:75284450-75284451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528758984	chr1:75284505-75284506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567701783	chr1:75284550-75284551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190223544	chr1:75284578-75284579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571826021	chr1:75284594-75284595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556514730	chr1:75284634-75284635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538804091	chr1:75284664-75284665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1248441	chr1:75284668-75284669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569407097	chr1:75284715-75284716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536687796	chr1:75284763-75284764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538970800	chr1:75284816-75284817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555322170	chr1:75284925-75284926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573531446	chr1:75284941-75284942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368452930	chr1:75284944-75284945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141407468	chr1:75285025-75285026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577915074	chr1:75285094-75285095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9782986	chr1:75285101-75285102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563813912	chr1:75285102-75285103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61788838	chr1:75285103-75285104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542683291	chr1:75285123-75285124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561355001	chr1:75285153-75285154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187543313	chr1:75285182-75285183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547277943	chr1:75285185-75285186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9783028	chr1:75285216-75285217	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532613743	chr1:75285230-75285231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12725868	chr1:75285242-75285243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193279316	chr1:75285304-75285305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146987299	chr1:75285327-75285328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374765545	chr1:75285370-75285371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548769722	chr1:75285427-75285428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112834086	chr1:75285477-75285478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138072603	chr1:75285527-75285528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34761491	chr1:75285542-75285543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577993618	chr1:75285597-75285598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143915090	chr1:75285600-75285601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75284000-75286000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:75284400-75285200	Enhancers	Fetal Lung	lung
3	chr1:75285200-75285800	Enhancers	Fetal Heart	heart
4	chr1:75285200-75288600	Weak transcription	Fetal Lung	lung
5	chr1:75288600-75289000	Enhancers	Fetal Lung	lung
6	chr1:75290000-75291000	Enhancers	GM12878-XiMat	blood
7	chr1:75294400-75295600	Enhancers	Fetal Heart	heart
8	chr1:75294400-75298200	Enhancers	Fetal Lung	lung
9	chr1:75295600-75298600	Weak transcription	Fetal Heart	heart
10	chr1:75296800-75297000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:75296800-75297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:75298200-75300000	Weak transcription	Fetal Lung	lung
13	chr1:75298600-75300400	Enhancers	Fetal Heart	heart
14	chr1:75299800-75300800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:75300000-75301000	Enhancers	Fetal Lung	lung
16	chr1:75300400-75300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:75300800-75301000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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