Variant report

Variant	nsv603447
Chromosome Location	chr6:66321191-66346089
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	chr6:66344295..66347269-chr6:66347639..66350147,2	MCF-7	breast:
2	chr15:48090306..48091135-chr6:66342198..66342838,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13211922	chr6:66321191-66321192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546687019	chr6:66321194-66321195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138018371	chr6:66321250-66321251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533302494	chr6:66321252-66321253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571276239	chr6:66321273-66321274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115978499	chr6:66321308-66321309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189954078	chr6:66321313-66321314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534497915	chr6:66321317-66321318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564165124	chr6:66321320-66321321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183293358	chr6:66321340-66321341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540204762	chr6:66321343-66321344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541513182	chr6:66333010-66333011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6900513	chr6:66333105-66333106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs574844862	chr6:66333122-66333123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145468537	chr6:66333167-66333168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12203494	chr6:66333188-66333189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563945890	chr6:66333201-66333202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559300484	chr6:66333318-66333319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139684738	chr6:66333328-66333329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577725609	chr6:66333364-66333365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9345658	chr6:66333394-66333395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532753022	chr6:66333442-66333443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35751746	chr6:66333481-66333482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73742026	chr6:66333491-66333492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs200013192	chr6:66333497-66333498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528679865	chr6:66333513-66333514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs354369	chr6:66333519-66333520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567034800	chr6:66333553-66333554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552106648	chr6:66333557-66333558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77923693	chr6:66333605-66333606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs728880	chr6:66333622-66333623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs370033179	chr6:66333649-66333650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569345278	chr6:66333655-66333656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555033094	chr6:66333667-66333668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs902287	chr6:66333672-66333673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367901724	chr6:66333680-66333681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs728881	chr6:66333726-66333727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs555066976	chr6:66333741-66333742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76388069	chr6:66333806-66333807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543964899	chr6:66333964-66333965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149753028	chr6:66334034-66334035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368353128	chr6:66334163-66334164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144585640	chr6:66334197-66334198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546428574	chr6:66334252-66334253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559802181	chr6:66334261-66334262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs902286	chr6:66334274-66334275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4446546	chr6:66334327-66334328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561971849	chr6:66334379-66334380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115223101	chr6:66334382-66334383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539178186	chr6:66334402-66334403	Enhancers	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
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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66318800-66321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:66320800-66321200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:66333000-66335000	Enhancers	A549	lung
4	chr6:66344000-66344200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:66346000-66346400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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