Variant report

Variant	nsv516658
Chromosome Location	chr6:113594950-113598113
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	chr6:113590480..113593436-chr6:113597910..113599532,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1167969	chr6:113594950-113594951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563527721	chr6:113594954-113594955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192245033	chr6:113594976-113594977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552378106	chr6:113594980-113594981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571682484	chr6:113594981-113594982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564591896	chr6:113595024-113595025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142539941	chr6:113595037-113595038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144181576	chr6:113595047-113595048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7766616	chr6:113595048-113595049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534845660	chr6:113595067-113595068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551123542	chr6:113595073-113595074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569393629	chr6:113595118-113595119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113985947	chr6:113595121-113595122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562772223	chr6:113595125-113595126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79019240	chr6:113595184-113595185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575112577	chr6:113595232-113595233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534962087	chr6:113595250-113595251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552682190	chr6:113595258-113595259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574131638	chr6:113595287-113595288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548223658	chr6:113595314-113595315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78970222	chr6:113595373-113595374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139824982	chr6:113595468-113595469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36083261	chr6:113595474-113595475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185809707	chr6:113595500-113595501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190283420	chr6:113595524-113595525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528778187	chr6:113595525-113595526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11962327	chr6:113595624-113595625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12193394	chr6:113595686-113595687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs76766431	chr6:113595727-113595728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551009293	chr6:113595782-113595783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569331464	chr6:113595910-113595911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374355544	chr6:113595931-113595932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531040174	chr6:113595932-113595933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182051037	chr6:113595964-113595965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145489469	chr6:113595975-113595976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534600619	chr6:113595983-113595984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553263678	chr6:113596039-113596040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73531815	chr6:113596052-113596053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559876662	chr6:113596073-113596074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73531818	chr6:113596078-113596079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs9488127	chr6:113596100-113596101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1167968	chr6:113596123-113596124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185016701	chr6:113596161-113596162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188561339	chr6:113596162-113596163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367559240	chr6:113596204-113596205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532132241	chr6:113596221-113596222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147271086	chr6:113596267-113596268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540492252	chr6:113596281-113596282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9488128	chr6:113596287-113596288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529622603	chr6:113596297-113596298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113594000-113597600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:113594200-113598400	Weak transcription	NHDF-Ad	bronchial
3	chr6:113596600-113597800	Enhancers	HUVEC	blood vessel
4	chr6:113596600-113598800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:113597600-113598400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:113597800-113598200	Enhancers	Osteobl	bone
7	chr6:113597800-113598400	Flanking Active TSS	HUVEC	blood vessel

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