Variant report

Variant	esv3339075
Chromosome Location	chr6:77256433-77257781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538789755	chr6:77256440-77256441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375841638	chr6:77256449-77256450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557189614	chr6:77256507-77256508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527372014	chr6:77256508-77256509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568995487	chr6:77256517-77256518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536326752	chr6:77256532-77256533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192359623	chr6:77256537-77256538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11963458	chr6:77256547-77256548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12661569	chr6:77256578-77256579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553212945	chr6:77256668-77256669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202188285	chr6:77256713-77256714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35833838	chr6:77256723-77256724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12209895	chr6:77256724-77256725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28811923	chr6:77256725-77256726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28826048	chr6:77256726-77256727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12209937	chr6:77256733-77256734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12203751	chr6:77256734-77256735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28805998	chr6:77256735-77256736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28796715	chr6:77256736-77256737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563531949	chr6:77256745-77256746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190237344	chr6:77256749-77256750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543085820	chr6:77256772-77256773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561240898	chr6:77256777-77256778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528445184	chr6:77256783-77256784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534259333	chr6:77256786-77256787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9766958	chr6:77256831-77256832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547018353	chr6:77256834-77256835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571715327	chr6:77256835-77256836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532436429	chr6:77256841-77256842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187182811	chr6:77256856-77256857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190523918	chr6:77256857-77256858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531162522	chr6:77256893-77256894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545353914	chr6:77256894-77256895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199941292	chr6:77256897-77256898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199568865	chr6:77256902-77256903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550927283	chr6:77256904-77256905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183733977	chr6:77256905-77256906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12205134	chr6:77256929-77256930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188701533	chr6:77256932-77256933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549760609	chr6:77256963-77256964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568260954	chr6:77256964-77256965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372973768	chr6:77256971-77256972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375420307	chr6:77256982-77256983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369812421	chr6:77256985-77256986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199527516	chr6:77256994-77256995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535769100	chr6:77257000-77257001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372776399	chr6:77257002-77257003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376211795	chr6:77257005-77257006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555847117	chr6:77257008-77257009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547258447	chr6:77257018-77257019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
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
Acute lymphoblastic leukemia	21098271	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77245200-77257800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:77257600-77258000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:77257600-77258400	Enhancers	Fetal Heart	heart

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