Variant report

Variant	esv18389
Chromosome Location	chr6:65823251-65823958
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	chr6:65821523..65823761-chr6:65825584..65828218,2	MCF-7	breast:
2	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4549603	chr6:65823272-65823273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60670394	chr6:65823286-65823287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60772089	chr6:65823295-65823296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181989205	chr6:65823298-65823299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150466611	chr6:65823319-65823320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386702107	chr6:65823328-65823329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2350520	chr6:65823330-65823331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371382123	chr6:65823331-65823332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2350521	chr6:65823344-65823345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2882433	chr6:65823356-65823357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2882434	chr6:65823401-65823402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2350522	chr6:65823461-65823462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551492757	chr6:65823464-65823465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2882435	chr6:65823505-65823506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77466377	chr6:65823529-65823530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138276236	chr6:65823531-65823532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73765784	chr6:65823552-65823553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536862168	chr6:65823560-65823561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79624820	chr6:65823582-65823583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149151875	chr6:65823584-65823585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377063705	chr6:65823601-65823602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200184225	chr6:65823602-65823603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538977437	chr6:65823603-65823604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201754076	chr6:65823605-65823606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558731250	chr6:65823607-65823608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377745947	chr6:65823617-65823618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539829962	chr6:65823632-65823633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553845962	chr6:65823681-65823682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72879849	chr6:65823777-65823778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72879851	chr6:65823793-65823794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73765787	chr6:65823842-65823843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs386702109	chr6:65823858-65823859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184931526	chr6:65823893-65823894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16880346	chr6:65823898-65823899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527702346	chr6:65823916-65823917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13198799	chr6:65823933-65823934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16880348	chr6:65823954-65823955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65822600-65823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:65822600-65823800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:65823400-65824000	Enhancers	HUVEC	blood vessel

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