Variant report

Variant	nsv508412
Chromosome Location	chr6:74578788-74634589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74564379..74565320-chr6:74608025..74608803,2	MCF-7	breast:
2	chr6:74565754..74566717-chr6:74608280..74609006,4	MCF-7	breast:
3	chr6:74448554..74449078-chr6:74608125..74608832,2	MCF-7	breast:
4	chr6:74564309..74565336-chr6:74608092..74608897,3	MCF-7	breast:
5	chr6:74565749..74566422-chr6:74608012..74609100,4	MCF-7	breast:

Extended variants
information (count: 1321 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1321 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377696863	chr6:74578832-74578833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569082984	chr6:74578843-74578844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536051099	chr6:74578850-74578851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554255694	chr6:74578917-74578918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78194613	chr6:74578946-74578947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143581497	chr6:74579008-74579009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75248855	chr6:74579091-74579092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74688712	chr6:74579119-74579120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78722357	chr6:74579122-74579123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78137472	chr6:74579124-74579125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116073052	chr6:74579159-74579160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563673821	chr6:74579255-74579256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112476339	chr6:74579276-74579277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560592251	chr6:74579294-74579295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527751691	chr6:74579315-74579316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3012560	chr6:74579327-74579328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78345171	chr6:74579340-74579341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79280976	chr6:74579431-74579432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192236852	chr6:74579461-74579462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60325463	chr6:74579470-74579471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529899869	chr6:74579476-74579477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115471851	chr6:74579488-74579489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566242894	chr6:74579571-74579572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61177408	chr6:74579574-74579575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558207748	chr6:74579594-74579595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113458702	chr6:74579598-74579599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535893718	chr6:74579634-74579635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115152903	chr6:74579696-74579697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556824049	chr6:74579703-74579704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184188913	chr6:74579748-74579749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538300632	chr6:74579766-74579767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550539963	chr6:74579767-74579768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542458491	chr6:74579778-74579779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188844234	chr6:74579817-74579818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111381329	chr6:74579819-74579820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369280380	chr6:74579820-74579821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142041056	chr6:74579830-74579831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73755082	chr6:74579865-74579866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564564077	chr6:74579921-74579922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375527558	chr6:74579958-74579959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76069361	chr6:74579992-74579993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536329465	chr6:74580002-74580003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116956092	chr6:74580007-74580008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79724834	chr6:74580087-74580088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79128601	chr6:74580105-74580106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72961242	chr6:74580176-74580177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566355520	chr6:74580180-74580181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3012561	chr6:74580198-74580199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373060791	chr6:74580222-74580223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192353774	chr6:74580248-74580249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:74565600-74580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:74565800-74582800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:74567600-74586200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:74568800-74582400	Weak transcription	NHDF-Ad	bronchial
6	chr6:74572200-74580200	Weak transcription	HMEC	breast
7	chr6:74573800-74582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:74576200-74580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:74576400-74581800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:74576400-74582200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:74580200-74581000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:74580200-74581000	Enhancers	HMEC	breast
13	chr6:74580400-74581200	Enhancers	NHEK	skin
14	chr6:74580400-74581400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:74580400-74581800	Enhancers	Placenta	Placenta
16	chr6:74580600-74580800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:74581000-74581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:74581000-74582800	Weak transcription	HMEC	breast
19	chr6:74581200-74583000	Weak transcription	NHEK	skin
20	chr6:74581600-74582200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:74581800-74582800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:74582200-74583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:74582400-74583400	Enhancers	NHDF-Ad	bronchial
24	chr6:74582600-74582800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:74582600-74583200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:74582800-74583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:74582800-74583400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:74583200-74583400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:74583200-74588000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:74583400-74587400	Weak transcription	NHDF-Ad	bronchial
31	chr6:74583400-74587600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:74583400-74588000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:74583800-74584400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:74585800-74586200	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:74585800-74586400	Enhancers	Colon Smooth Muscle	Colon
36	chr6:74585800-74586600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:74586000-74586200	Enhancers	Fetal Kidney	kidney
38	chr6:74586200-74586400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:74586600-74589200	Weak transcription	Fetal Kidney	kidney
40	chr6:74587400-74590200	Enhancers	NHDF-Ad	bronchial
41	chr6:74587600-74588800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:74588000-74588600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:74588000-74588800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:74588000-74590400	Enhancers	Fetal Stomach	stomach
45	chr6:74588600-74589600	Enhancers	Fetal Muscle Leg	muscle
46	chr6:74588800-74589600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:74588800-74591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:74589200-74589400	Enhancers	Fetal Kidney	kidney
49	chr6:74589400-74592600	Weak transcription	Fetal Kidney	kidney
50	chr6:74590400-74591000	Weak transcription	Fetal Stomach	stomach

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