Variant report

Variant	nsv1028906
Chromosome Location	chr6:65865064-65901628
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	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:
2	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:

Extended variants
information (count: 333 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:333 , 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	rs182737383	chr6:65865070-65865071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188260199	chr6:65865079-65865080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542999420	chr6:65865080-65865081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537499557	chr6:65865104-65865105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192765965	chr6:65865137-65865138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370534714	chr6:65865225-65865226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78414693	chr6:65865226-65865227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368978256	chr6:65865227-65865228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533022924	chr6:65865241-65865242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150662563	chr6:65865297-65865298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372726318	chr6:65865308-65865309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75907148	chr6:65865316-65865317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187573099	chr6:65865332-65865333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529178632	chr6:65865335-65865336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561373773	chr6:65865403-65865404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549270916	chr6:65865412-65865413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569292838	chr6:65865421-65865422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540054695	chr6:65865425-65865426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577279487	chr6:65865441-65865442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115347688	chr6:65865465-65865466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192432328	chr6:65865472-65865473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541007455	chr6:65865492-65865493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35471083	chr6:65865626-65865627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534289224	chr6:65865629-65865630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115799235	chr6:65865631-65865632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139035664	chr6:65865642-65865643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374990129	chr6:65865701-65865702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536562463	chr6:65865732-65865733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556406155	chr6:65865752-65865753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369313125	chr6:65865806-65865807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72881736	chr6:65865858-65865859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543832227	chr6:65865896-65865897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142865420	chr6:65865897-65865898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570128273	chr6:65865930-65865931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531058781	chr6:65866030-65866031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577675239	chr6:65866085-65866086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11969157	chr6:65866099-65866100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560112430	chr6:65866102-65866103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148030767	chr6:65866106-65866107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549186891	chr6:65866113-65866114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7746835	chr6:65866145-65866146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6455028	chr6:65866167-65866168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184929721	chr6:65866175-65866176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571931424	chr6:65866238-65866239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538814121	chr6:65866263-65866264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6909284	chr6:65866271-65866272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534036173	chr6:65866277-65866278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188133270	chr6:65866300-65866301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117053190	chr6:65866306-65866307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536884663	chr6:65866327-65866328	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
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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:65871000-65872200	Enhancers	Fetal Lung	lung
4	chr6:65871000-65872200	Enhancers	Fetal Stomach	stomach
5	chr6:65871600-65872200	Enhancers	HepG2	liver
6	chr6:65871800-65874800	Enhancers	Fetal Brain Male	brain
7	chr6:65872200-65872400	Enhancers	Fetal Brain Female	brain
8	chr6:65872400-65873400	Weak transcription	Fetal Brain Female	brain
9	chr6:65873400-65874400	Enhancers	Fetal Brain Female	brain
10	chr6:65887800-65888200	Active TSS	Aorta	Aorta
11	chr6:65888000-65888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:65896400-65897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:65899600-65900000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:65899800-65901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:65900000-65900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:65900400-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:65900400-65902000	Enhancers	Brain Germinal Matrix	brain
18	chr6:65900600-65901800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:65900600-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:65900600-65901800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:65900600-65902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:65900600-65902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:65900800-65901800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:65900800-65901800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:65901200-65902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:65901400-65901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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