Variant report

Variant	esv3527704
Chromosome Location	chr6:71332131-71335429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143998273	chr6:71332144-71332145	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528911912	chr6:71332195-71332196	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548724184	chr6:71332221-71332222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150256796	chr6:71332284-71332285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115687470	chr6:71332298-71332299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550816759	chr6:71332321-71332322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2691499	chr6:71332386-71332387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2842065	chr6:71332409-71332410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138886675	chr6:71332455-71332456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77144732	chr6:71332491-71332492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535906470	chr6:71332495-71332496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555484673	chr6:71332504-71332505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575546186	chr6:71332535-71332536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544225760	chr6:71332700-71332701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59637532	chr6:71332739-71332740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57797152	chr6:71332740-71332741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564362154	chr6:71332743-71332744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555491547	chr6:71332761-71332762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58392155	chr6:71332817-71332818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186037235	chr6:71332825-71332826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190955663	chr6:71332873-71332874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560361976	chr6:71332878-71332879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183862592	chr6:71332894-71332895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573904483	chr6:71332907-71332908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112208329	chr6:71332917-71332918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542668423	chr6:71333001-71333002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541478659	chr6:71333002-71333003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77902383	chr6:71333004-71333005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547772779	chr6:71333005-71333006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35029934	chr6:71333026-71333027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550904582	chr6:71333027-71333028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533347453	chr6:71333048-71333049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144827048	chr6:71333053-71333054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545116644	chr6:71333056-71333057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567763460	chr6:71333091-71333092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117879828	chr6:71333125-71333126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535578972	chr6:71333146-71333147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6904411	chr6:71333190-71333191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569196273	chr6:71333240-71333241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550108044	chr6:71333245-71333246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538226257	chr6:71333277-71333278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561833018	chr6:71333305-71333306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558111320	chr6:71333308-71333309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529123720	chr6:71333315-71333316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs578015297	chr6:71333323-71333324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540499182	chr6:71333514-71333515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139824377	chr6:71333518-71333519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573735269	chr6:71333519-71333520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542406991	chr6:71333532-71333533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs547446428	chr6:71333569-71333570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Gastrointestinal stromal cancer	20818650	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
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71331400-71332200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:71331600-71332200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:71331600-71332400	Enhancers	Fetal Brain Male	brain
4	chr6:71332000-71332600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:71332200-71333200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:71333200-71333800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:71333800-71339400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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