Variant report

Variant	esv3341046
Chromosome Location	chr6:66452280-66478185
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	chr6:66470336..66472055-chr6:66477425..66479118,2	MCF-7	breast:
2	chr6:66470336..66472055-chr6:66477425..66479118,2	MCF-7	breast:

Extended variants
information (count: 241 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190146648	chr6:66456232-66456233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144117372	chr6:66456233-66456234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548388925	chr6:66456234-66456235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561022730	chr6:66456238-66456239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182768348	chr6:66456255-66456256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186856606	chr6:66456267-66456268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191993498	chr6:66456285-66456286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79920717	chr6:66456289-66456290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552471860	chr6:66456296-66456297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565996372	chr6:66456297-66456298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2636129	chr6:66456318-66456319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2636130	chr6:66456319-66456320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554835415	chr6:66456327-66456328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574874912	chr6:66456349-66456350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532227554	chr6:66456360-66456361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150558892	chr6:66456361-66456362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557435822	chr6:66456362-66456363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373592453	chr6:66456363-66456364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547250317	chr6:66456372-66456373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12526256	chr6:66456442-66456443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62409474	chr6:66456443-66456444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551452819	chr6:66456464-66456465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569596924	chr6:66456474-66456475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573235102	chr6:66456496-66456497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541998015	chr6:66456507-66456508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562189936	chr6:66456526-66456527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535113683	chr6:66456588-66456589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149686037	chr6:66456599-66456600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560359656	chr6:66470280-66470281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560240529	chr6:66470300-66470301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9453394	chr6:66470303-66470304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9453395	chr6:66470306-66470307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151250177	chr6:66470328-66470329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531917334	chr6:66470363-66470364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570973793	chr6:66470394-66470395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9360152	chr6:66470416-66470417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145348045	chr6:66470417-66470418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539122867	chr6:66470433-66470434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546681839	chr6:66470437-66470438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147651336	chr6:66470462-66470463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532030202	chr6:66470472-66470473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542250073	chr6:66470534-66470535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555227081	chr6:66470571-66470572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575188331	chr6:66470590-66470591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189420662	chr6:66470631-66470632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142254913	chr6:66470636-66470637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4492179	chr6:66470669-66470670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540339739	chr6:66470681-66470682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560584172	chr6:66470682-66470683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181019493	chr6:66470703-66470704	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66456200-66456600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:66470200-66470600	Enhancers	A549	lung
3	chr6:66470200-66471000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:66470200-66473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:66475000-66475200	Bivalent Enhancer	Fetal Heart	heart
6	chr6:66475200-66477800	Enhancers	Fetal Heart	heart
7	chr6:66476400-66476600	Enhancers	Pancreatic Islets	Pancreatic Islet

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