Variant report

Variant	nsv1018678
Chromosome Location	chr6:65816879-65867769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65821523..65823761-chr6:65825584..65828218,2	MCF-7	breast:
2	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:
3	chr6:65821523..65823761-chr6:65825584..65828218,2	MCF-7	breast:
4	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:

Extended variants
information (count: 700 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572235666	chr6:65819625-65819626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6933676	chr6:65819636-65819637	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs181744196	chr6:65819638-65819639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185484865	chr6:65819642-65819643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543839302	chr6:65819666-65819667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563630064	chr6:65819701-65819702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142179480	chr6:65819722-65819723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114380709	chr6:65819724-65819725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553639896	chr6:65819743-65819744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115777732	chr6:65819748-65819749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114305855	chr6:65819761-65819762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190309767	chr6:65819776-65819777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6906629	chr6:65820104-65820105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143697885	chr6:65820119-65820120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559821664	chr6:65820156-65820157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528531680	chr6:65820157-65820158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35757214	chr6:65820183-65820184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182546013	chr6:65820186-65820187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368323701	chr6:65820199-65820200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34096827	chr6:65820201-65820202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562185653	chr6:65820202-65820203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533873616	chr6:65820263-65820264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1407246	chr6:65820292-65820293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185180574	chr6:65820304-65820305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537412445	chr6:65820309-65820310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559169435	chr6:65820328-65820329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4485992	chr6:65820384-65820385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148125725	chr6:65820396-65820397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554294781	chr6:65822640-65822641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558167747	chr6:65822666-65822667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117952870	chr6:65822715-65822716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6455026	chr6:65822759-65822760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574009246	chr6:65822768-65822769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545645888	chr6:65822782-65822783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563154475	chr6:65822826-65822827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541450781	chr6:65822833-65822834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148649111	chr6:65822863-65822864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544196397	chr6:65822875-65822876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564050669	chr6:65822887-65822888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142119485	chr6:65822892-65822893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151130850	chr6:65822896-65822897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140246505	chr6:65822932-65822933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386702106	chr6:65822942-65822943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572666819	chr6:65822945-65822946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6909639	chr6:65822963-65822964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185114026	chr6:65822994-65822995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145153931	chr6:65823004-65823005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537864699	chr6:65823008-65823009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551332300	chr6:65823021-65823022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374249523	chr6:65823050-65823051	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65819600-65819800	Enhancers	Ovary	ovary
2	chr6:65820000-65820400	Enhancers	Fetal Kidney	kidney
3	chr6:65822600-65823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:65822600-65823800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:65823400-65824000	Enhancers	HUVEC	blood vessel
6	chr6:65826400-65826800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:65826800-65827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:65826800-65827200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:65827200-65827400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:65827400-65828200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:65828000-65828600	Enhancers	Fetal Lung	lung
12	chr6:65828200-65828600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr6:65833200-65833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:65833400-65833800	Enhancers	Fetal Lung	lung
15	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:65833800-65834000	Enhancers	Fetal Stomach	stomach
18	chr6:65833800-65834800	Weak transcription	Fetal Lung	lung
19	chr6:65834600-65835000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:65834800-65835000	Enhancers	Fetal Stomach	stomach
21	chr6:65834800-65836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:65835000-65835200	Enhancers	Fetal Lung	lung
23	chr6:65836400-65836600	Enhancers	Fetal Stomach	stomach
24	chr6:65836600-65837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:65856000-65856600	Enhancers	HUVEC	blood vessel
26	chr6:65857800-65859200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:65859600-65859800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:65860000-65861400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:65861000-65861400	Enhancers	Fetal Lung	lung
30	chr6:65861400-65862600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion

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