Variant report

Variant	nsv970422
Chromosome Location	chr7:119233323-119244802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:119234213..119235745-chr7:119237438..119239172,2	K562	blood:
2	chr7:119090628..119092465-chr7:119234986..119236766,2	K562	blood:
3	chr7:119234213..119235745-chr7:119237438..119239172,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192264821	chr7:119233817-119233818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563400626	chr7:119233916-119233917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528843783	chr7:119233949-119233950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141257989	chr7:119233978-119233979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564510355	chr7:119234031-119234032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184839285	chr7:119234035-119234036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528378681	chr7:119234063-119234064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79254327	chr7:119234064-119234065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528538214	chr7:119234117-119234118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571462871	chr7:119234162-119234163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73719970	chr7:119234165-119234166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73719971	chr7:119234175-119234176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6971166	chr7:119234197-119234198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145052501	chr7:119234211-119234212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146803082	chr7:119234215-119234216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76743688	chr7:119234224-119234225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140615528	chr7:119234279-119234280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150446194	chr7:119234294-119234295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575704751	chr7:119234403-119234404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368916192	chr7:119234428-119234429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544801037	chr7:119234465-119234466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541042952	chr7:119234516-119234517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6975674	chr7:119234557-119234558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376051854	chr7:119234632-119234633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573702231	chr7:119234674-119234675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542772065	chr7:119234722-119234723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149212130	chr7:119234791-119234792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34052356	chr7:119234805-119234806	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs73719972	chr7:119234817-119234818	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs35911298	chr7:119234868-119234869	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs545275835	chr7:119234869-119234870	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs565192111	chr7:119234870-119234871	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs530583951	chr7:119234878-119234879	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs550770249	chr7:119234944-119234945	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs189613368	chr7:119234959-119234960	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs533061031	chr7:119234960-119234961	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs151168719	chr7:119234970-119234971	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs180881220	chr7:119234985-119234986	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs573798647	chr7:119234999-119235000	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs57199355	chr7:119235034-119235035	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566527102	chr7:119235066-119235067	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs12537312	chr7:119235090-119235091	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs80104525	chr7:119235134-119235135	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs529506872	chr7:119235152-119235153	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs569551664	chr7:119235235-119235236	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs143410311	chr7:119235244-119235245	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs555123719	chr7:119235301-119235302	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs185978463	chr7:119235303-119235304	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs536349983	chr7:119235354-119235355	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs549640063	chr7:119235392-119235393	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119233800-119235800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:119234000-119235600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:119234000-119235600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:119234000-119236400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:119234200-119235600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:119234600-119235200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr7:119234600-119235600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:119234600-119235800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:119234600-119235800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:119234600-119235800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:119234600-119236200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:119234800-119236400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:119235600-119236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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