Variant report

Variant	nsv603724
Chromosome Location	chr6:74594687-74611542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 242 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12525461	chr6:74594687-74594688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59491406	chr6:74594758-74594759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539728082	chr6:74594768-74594769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558008621	chr6:74594815-74594816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9343086	chr6:74594818-74594819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150259400	chr6:74594858-74594859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190112768	chr6:74594862-74594863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10943140	chr6:74594864-74594865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371735174	chr6:74594972-74594973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138957704	chr6:74595068-74595069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10943141	chr6:74595078-74595079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577955603	chr6:74595118-74595119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532409794	chr6:74595130-74595131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200957504	chr6:74595170-74595171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368972029	chr6:74595175-74595176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201498960	chr6:74595176-74595177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35305080	chr6:74595194-74595195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193170097	chr6:74595217-74595218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73466404	chr6:74595260-74595261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531000546	chr6:74595273-74595274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372018227	chr6:74595290-74595291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543118280	chr6:74595292-74595293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561196127	chr6:74595300-74595301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4706560	chr6:74595362-74595363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75850791	chr6:74595366-74595367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4708100	chr6:74595479-74595480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149395407	chr6:74595482-74595483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551689519	chr6:74595490-74595491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569874598	chr6:74595538-74595539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371438776	chr6:74595559-74595560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148146954	chr6:74595613-74595614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567217776	chr6:74595622-74595623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184424623	chr6:74595631-74595632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56833243	chr6:74595698-74595699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577215590	chr6:74595799-74595800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545335241	chr6:74595809-74595810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531118768	chr6:74595825-74595826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557193238	chr6:74595830-74595831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188685073	chr6:74595861-74595862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181111981	chr6:74595939-74595940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561515573	chr6:74596018-74596019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185478684	chr6:74596169-74596170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540715679	chr6:74596257-74596258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139483151	chr6:74596286-74596287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7768284	chr6:74596345-74596346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59997059	chr6:74596346-74596347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9647598	chr6:74596347-74596348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9647599	chr6:74596349-74596350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147728744	chr6:74596368-74596369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9647600	chr6:74596371-74596372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74593000-74597000	Weak transcription	Fetal Kidney	kidney
2	chr6:74594600-74595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:74595200-74596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:74596000-74596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:74596000-74597400	Enhancers	Primary T cells from cord blood	blood
6	chr6:74596000-74597400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:74596000-74597600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr6:74596000-74598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:74596200-74597000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:74596200-74597000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:74596200-74597000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:74596200-74597000	Enhancers	GM12878-XiMat	blood
13	chr6:74596200-74597400	Enhancers	Dnd41	blood
14	chr6:74596400-74597000	Enhancers	NH-A	brain
15	chr6:74596400-74597200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:74596400-74597600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:74596400-74597600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:74596600-74596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:74596600-74597000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:74596600-74597000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:74596600-74597000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:74596600-74597400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:74596600-74597400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:74596600-74597400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:74596600-74597600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:74596800-74598400	Enhancers	HUVEC	blood vessel
27	chr6:74597000-74597200	Enhancers	Fetal Kidney	kidney
28	chr6:74597400-74601200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:74601200-74601400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr6:74601200-74602000	ZNF genes & repeats	Aorta	Aorta
31	chr6:74602000-74602200	Weak transcription	Aorta	Aorta
32	chr6:74602200-74602400	Enhancers	Aorta	Aorta
33	chr6:74610400-74610800	ZNF genes & repeats	Gastric	stomach
34	chr6:74610600-74611200	ZNF genes & repeats	Placenta	Placenta
35	chr6:74610600-74611200	ZNF genes & repeats	Pancreas	Pancrea

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