Variant report

Variant	nsv470824
Chromosome Location	chr6:66214008-66254084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66228230..66230523-chr6:66231359..66233821,2	MCF-7	breast:
2	chr6:66228230..66230523-chr6:66231359..66233821,2	MCF-7	breast:
3	chr6:66249610..66251834-chr6:66299808..66302442,2	K562	blood:

Extended variants
information (count: 322 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs724103	chr6:66234241-66234242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs724104	chr6:66234247-66234248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533910547	chr6:66234272-66234273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374453809	chr6:66234296-66234297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185433496	chr6:66234307-66234308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144891015	chr6:66234347-66234348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536941869	chr6:66234432-66234433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556942813	chr6:66234435-66234436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148512562	chr6:66234489-66234490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182822561	chr6:66234526-66234527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138641777	chr6:66234625-66234626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9363384	chr6:66234737-66234738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs372842749	chr6:66234807-66234808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9354260	chr6:66234821-66234822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs544064055	chr6:66234843-66234844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141769234	chr6:66234894-66234895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35986893	chr6:66234948-66234949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386407366	chr6:66234955-66234956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200412074	chr6:66234961-66234962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566553512	chr6:66234983-66234984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185943875	chr6:66235036-66235037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370849404	chr6:66235061-66235062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558838357	chr6:66235072-66235073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577082771	chr6:66235080-66235081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571600972	chr6:66235086-66235087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534307956	chr6:66235120-66235121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115144168	chr6:66235137-66235138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556760663	chr6:66235196-66235197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567647040	chr6:66235204-66235205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9363385	chr6:66235215-66235216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556879487	chr6:66235258-66235259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75471217	chr6:66235266-66235267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9453319	chr6:66235307-66235308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371168799	chr6:66235339-66235340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75940045	chr6:66235344-66235345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577627969	chr6:66235388-66235389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9354261	chr6:66235479-66235480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191595207	chr6:66235507-66235508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573562252	chr6:66235529-66235530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183944519	chr6:66235530-66235531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562413100	chr6:66235562-66235563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188838367	chr6:66235636-66235637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193288034	chr6:66235678-66235679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565080641	chr6:66235682-66235683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540197154	chr6:66235738-66235739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73447233	chr6:66235752-66235753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557337131	chr6:66238902-66238903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568621141	chr6:66238908-66238909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570530022	chr6:66238935-66238936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117358421	chr6:66238967-66238968	Enhancers	n/a	n/a	Overlapped CNVs	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
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66234200-66234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:66234600-66235000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:66235000-66235800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:66238800-66239800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:66241000-66242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:66242600-66245600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:66245600-66246000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:66245600-66246000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:66245600-66246600	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:66247400-66248000	Enhancers	Fetal Brain Male	brain
11	chr6:66248400-66248800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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