Variant report

Variant	esv3369718
Chromosome Location	chr6:64859793-64863791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544212032	chr6:64859798-64859799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75825991	chr6:64859804-64859805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531237012	chr6:64859815-64859816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550336079	chr6:64859879-64859880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148651292	chr6:64859898-64859899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571099725	chr6:64859932-64859933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79834816	chr6:64859937-64859938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546804117	chr6:64859941-64859942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111404828	chr6:64859988-64859989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142170542	chr6:64859992-64859993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59138547	chr6:64860104-64860105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568763742	chr6:64860136-64860137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528217446	chr6:64860154-64860155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557520651	chr6:64860183-64860184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574387734	chr6:64862412-64862413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562615092	chr6:64862427-64862428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533255229	chr6:64862428-64862429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145851043	chr6:64862439-64862440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145412739	chr6:64862448-64862449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560576286	chr6:64862478-64862479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145670705	chr6:64862645-64862646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149182718	chr6:64862675-64862676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549290504	chr6:64862679-64862680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567331319	chr6:64862719-64862720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531496841	chr6:64862729-64862730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550020458	chr6:64862741-64862742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571260879	chr6:64862771-64862772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143353720	chr6:64862786-64862787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564261744	chr6:64862804-64862805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116220116	chr6:64862809-64862810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565715800	chr6:64862937-64862938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58697468	chr6:64862944-64862945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191176167	chr6:64862948-64862949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183448778	chr6:64862966-64862967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544354272	chr6:64863018-64863019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187791151	chr6:64863061-64863062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550275173	chr6:64863110-64863111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559710586	chr6:64863134-64863135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201911136	chr6:64863140-64863141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200170422	chr6:64863215-64863216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139034018	chr6:64863284-64863285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374529787	chr6:64863285-64863286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529236444	chr6:64863290-64863291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190656140	chr6:64863292-64863293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116814964	chr6:64863295-64863296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527722738	chr6:64863342-64863343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550172550	chr6:64863390-64863391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561136221	chr6:64863395-64863396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79398264	chr6:64863492-64863493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148358666	chr6:64863514-64863515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Cancer	20164920	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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64859000-64860000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:64859000-64860200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:64862400-64863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:64862600-64863200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:64863200-64869600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:64863400-64865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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