Variant report

Variant	nsv1017733
Chromosome Location	chr6:65835223-65920473
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: 1151 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577433613	chr6:65835223-65835224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372613346	chr6:65835230-65835231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188782691	chr6:65835284-65835285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147660416	chr6:65835288-65835289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12210382	chr6:65835289-65835290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536331920	chr6:65835325-65835326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181514966	chr6:65835373-65835374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367591659	chr6:65835383-65835384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140943906	chr6:65835469-65835470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531710640	chr6:65835496-65835497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551939741	chr6:65835501-65835502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565349146	chr6:65835538-65835539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527889963	chr6:65835591-65835592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185361114	chr6:65835599-65835600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190553400	chr6:65835615-65835616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116699402	chr6:65835701-65835702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374795457	chr6:65835705-65835706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550425040	chr6:65835718-65835719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568792189	chr6:65835736-65835737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558167036	chr6:65835778-65835779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79332433	chr6:65835784-65835785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182249908	chr6:65835809-65835810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9453195	chr6:65835831-65835832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553593414	chr6:65835833-65835834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573776497	chr6:65835849-65835850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542583405	chr6:65835856-65835857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369426329	chr6:65835907-65835908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562787221	chr6:65835931-65835932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576376546	chr6:65835948-65835949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371843066	chr6:65835974-65835975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565385888	chr6:65835988-65835989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532109054	chr6:65835990-65835991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1813358	chr6:65836027-65836028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370128238	chr6:65836047-65836048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577025779	chr6:65836061-65836062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561347917	chr6:65836091-65836092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538184011	chr6:65836176-65836177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530298231	chr6:65836177-65836178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185942148	chr6:65836231-65836232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570303173	chr6:65836262-65836263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189933293	chr6:65836353-65836354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76513463	chr6:65836368-65836369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570904291	chr6:65836373-65836374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181085612	chr6:65836386-65836387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150161164	chr6:65836429-65836430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567384770	chr6:65836452-65836453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536413138	chr6:65836489-65836490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77529189	chr6:65836491-65836492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576244971	chr6:65836516-65836517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545313462	chr6:65836564-65836565	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65834800-65836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:65836400-65836600	Enhancers	Fetal Stomach	stomach
3	chr6:65836600-65837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:65856000-65856600	Enhancers	HUVEC	blood vessel
5	chr6:65857800-65859200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:65859600-65859800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:65860000-65861400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:65861000-65861400	Enhancers	Fetal Lung	lung
9	chr6:65861400-65862600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:65871000-65872200	Enhancers	Fetal Lung	lung
13	chr6:65871000-65872200	Enhancers	Fetal Stomach	stomach
14	chr6:65871600-65872200	Enhancers	HepG2	liver
15	chr6:65871800-65874800	Enhancers	Fetal Brain Male	brain
16	chr6:65872200-65872400	Enhancers	Fetal Brain Female	brain
17	chr6:65872400-65873400	Weak transcription	Fetal Brain Female	brain
18	chr6:65873400-65874400	Enhancers	Fetal Brain Female	brain
19	chr6:65887800-65888200	Active TSS	Aorta	Aorta
20	chr6:65888000-65888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:65896400-65897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:65899600-65900000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:65899800-65901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:65900000-65900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:65900400-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:65900400-65902000	Enhancers	Brain Germinal Matrix	brain
27	chr6:65900600-65901800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:65900600-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:65900600-65901800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:65900600-65902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:65900600-65902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:65900800-65901800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:65900800-65901800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:65901200-65902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:65901400-65901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:65901800-65905200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:65902000-65910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:65909200-65909600	Enhancers	HUVEC	blood vessel
39	chr6:65910200-65910400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:65911600-65913000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:65913000-65913400	ZNF genes & repeats	Fetal Lung	lung

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