Variant report

Variant	nsv348880
Chromosome Location	chr6:65902222-65911707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 366 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538998139	chr6:65902240-65902241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544518968	chr6:65902252-65902253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542625372	chr6:65902299-65902300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377595436	chr6:65902300-65902301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559284220	chr6:65902305-65902306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577758875	chr6:65902310-65902311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540186896	chr6:65902378-65902379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9453220	chr6:65902462-65902463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192268083	chr6:65902463-65902464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564960103	chr6:65902512-65902513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542826231	chr6:65902541-65902542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182344128	chr6:65902593-65902594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564601284	chr6:65902610-65902611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531678485	chr6:65902620-65902621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535087	chr6:65902642-65902643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140482603	chr6:65902728-65902729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117032310	chr6:65902746-65902747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527689448	chr6:65902757-65902758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547354444	chr6:65902762-65902763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186922391	chr6:65902772-65902773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147065644	chr6:65902779-65902780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550233879	chr6:65902799-65902800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147663410	chr6:65902837-65902838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73741256	chr6:65902839-65902840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs146145315	chr6:65902857-65902858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572736244	chr6:65902896-65902897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533784341	chr6:65902908-65902909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553459448	chr6:65902910-65902911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573557487	chr6:65902914-65902915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542388858	chr6:65902925-65902926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191825756	chr6:65902936-65902937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184214606	chr6:65902944-65902945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544766815	chr6:65902950-65902951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75602302	chr6:65902965-65902966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527554821	chr6:65902989-65902990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138669975	chr6:65903002-65903003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149326954	chr6:65903008-65903009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530096908	chr6:65903017-65903018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541949078	chr6:65903023-65903024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550052721	chr6:65903037-65903038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570084763	chr6:65903101-65903102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560706	chr6:65903127-65903128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552768475	chr6:65903142-65903143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566395542	chr6:65903190-65903191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568300011	chr6:65903300-65903301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548031967	chr6:65903313-65903314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9453221	chr6:65903322-65903323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555225939	chr6:65903323-65903324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189019881	chr6:65903327-65903328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9453222	chr6:65903328-65903329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65901800-65905200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:65902000-65910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:65909200-65909600	Enhancers	HUVEC	blood vessel
4	chr6:65910200-65910400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:65911600-65913000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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