Variant report

Variant	nsv7920
Chromosome Location	chr6:74979517-74986088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201689590	chr6:74979518-74979519	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80143401	chr6:74979519-74979520	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1953176	chr6:74979556-74979557	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139984004	chr6:74979600-74979601	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370805256	chr6:74979645-74979646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536450421	chr6:74979682-74979683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554801335	chr6:74979733-74979734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567067192	chr6:74979734-74979735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186075583	chr6:74979735-74979736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12525068	chr6:74979765-74979766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149752897	chr6:74979802-74979803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12527310	chr6:74979902-74979903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558609525	chr6:74979936-74979937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11758445	chr6:74979953-74979954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1552564	chr6:74979956-74979957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115098146	chr6:74980014-74980015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1552565	chr6:74980031-74980032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34337296	chr6:74980134-74980135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200035866	chr6:74980139-74980140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs505256	chr6:74980162-74980163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75681389	chr6:74980183-74980184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560459133	chr6:74980185-74980186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572227759	chr6:74980191-74980192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189792755	chr6:74980250-74980251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72953738	chr6:74980280-74980281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1416395	chr6:74980303-74980304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1416396	chr6:74980309-74980310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77499718	chr6:74980412-74980413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1416397	chr6:74980435-74980436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548394875	chr6:74980456-74980457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183545270	chr6:74980487-74980488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534208204	chr6:74980498-74980499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552871535	chr6:74980523-74980524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187888112	chr6:74980544-74980545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537841161	chr6:74980560-74980561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556263276	chr6:74980569-74980570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1416398	chr6:74980590-74980591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145557619	chr6:74980632-74980633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553670991	chr6:74980637-74980638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572246855	chr6:74980671-74980672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192360507	chr6:74980712-74980713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564410096	chr6:74980752-74980753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573554107	chr6:74980779-74980780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3934372	chr6:74980786-74980787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568918816	chr6:74980904-74980905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397885692	chr6:74980911-74980912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544214994	chr6:74980916-74980917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9359076	chr6:74980957-74980958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372510727	chr6:74980968-74980969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1817735	chr6:74980974-74980975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74979000-74979600	Enhancers	Fetal Stomach	stomach
2	chr6:74979400-74979600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:74979400-74987400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:74979600-74983800	Weak transcription	Fetal Stomach	stomach
5	chr6:74981200-74981600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:74983800-74984200	Enhancers	Fetal Stomach	stomach

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