Variant report

Variant	esv3440109
Chromosome Location	chr6:65355631-65362329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113933410	chr6:65356085-65356086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370911144	chr6:65356091-65356092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548897195	chr6:65356151-65356152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373304076	chr6:65356229-65356230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567209893	chr6:65356256-65356257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559572254	chr6:65356289-65356290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533465182	chr6:65356296-65356297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182947025	chr6:65356321-65356322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570177079	chr6:65356324-65356325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376878608	chr6:65356337-65356338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549946733	chr6:65356341-65356342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200957774	chr6:65356342-65356343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549884050	chr6:65356355-65356356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571310022	chr6:65356372-65356373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2009850	chr6:65356383-65356384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535438068	chr6:65356416-65356417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572098714	chr6:65356418-65356419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536238350	chr6:65356425-65356426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78386234	chr6:65356467-65356468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574383024	chr6:65356487-65356488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187292404	chr6:65356489-65356490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572271513	chr6:65356496-65356497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578083532	chr6:65356523-65356524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545503601	chr6:65356590-65356591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1813560	chr6:65356591-65356592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527716489	chr6:65356611-65356612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548958387	chr6:65356616-65356617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560898342	chr6:65356654-65356655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374798509	chr6:65356701-65356702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76120748	chr6:65356716-65356717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531639098	chr6:65356750-65356751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116228084	chr6:65356848-65356849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149787533	chr6:65356857-65356858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10944658	chr6:65356908-65356909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145782221	chr6:65356937-65356938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565771040	chr6:65356944-65356945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13218461	chr6:65357003-65357004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552686408	chr6:65357032-65357033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13202049	chr6:65357033-65357034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9345341	chr6:65357118-65357119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191741256	chr6:65357122-65357123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578147148	chr6:65357129-65357130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148927866	chr6:65357176-65357177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144216572	chr6:65357181-65357182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9452282	chr6:65357182-65357183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62417975	chr6:65357212-65357213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542666165	chr6:65357222-65357223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560957826	chr6:65357232-65357233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371469782	chr6:65357233-65357234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531573226	chr6:65357249-65357250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65356000-65356800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:65356800-65358000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:65358200-65358400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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