Variant report

Variant	esv3357178
Chromosome Location	chr6:66374231-66378229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180975293	chr6:66374251-66374252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113441530	chr6:66374263-66374264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146866523	chr6:66374289-66374290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186322071	chr6:66374378-66374379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140667318	chr6:66374404-66374405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373617467	chr6:66374490-66374491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191619878	chr6:66374494-66374495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372289165	chr6:66374513-66374514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16897025	chr6:66374557-66374558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539397031	chr6:66374569-66374570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116416595	chr6:66374614-66374615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16897027	chr6:66374725-66374726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574866480	chr6:66374738-66374739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543820198	chr6:66374758-66374759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564000159	chr6:66374773-66374774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533103215	chr6:66374794-66374795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs923537	chr6:66374804-66374805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560122749	chr6:66374813-66374814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553840205	chr6:66374827-66374828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529366254	chr6:66374840-66374841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183243224	chr6:66374899-66374900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569387456	chr6:66374900-66374901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538199393	chr6:66374913-66374914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114831014	chr6:66374945-66374946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2130497	chr6:66374992-66374993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188700966	chr6:66375064-66375065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190898462	chr6:66375066-66375067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370398628	chr6:66375068-66375069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73742031	chr6:66375080-66375081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567792045	chr6:66375101-66375102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373533110	chr6:66375152-66375153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536873151	chr6:66375182-66375183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9345668	chr6:66375183-66375184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575004897	chr6:66375185-66375186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543801495	chr6:66375190-66375191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577191301	chr6:66377007-66377008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186103569	chr6:66377015-66377016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs969265	chr6:66377043-66377044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571249556	chr6:66377055-66377056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs969266	chr6:66377057-66377058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150736369	chr6:66377095-66377096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191021809	chr6:66377145-66377146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139044815	chr6:66377165-66377166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143957312	chr6:66377195-66377196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556465229	chr6:66377221-66377222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181453124	chr6:66377251-66377252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs969267	chr6:66377256-66377257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186637813	chr6:66377303-66377304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572431077	chr6:66377391-66377392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541541306	chr6:66377410-66377411	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66374000-66375200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:66377000-66379000	Enhancers	Hela-S3	cervix
3	chr6:66377200-66377600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:66377200-66378000	Enhancers	Fetal Lung	lung

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