Variant report

Variant	esv32624
Chromosome Location	chr6:74574221-74579804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537186951	chr6:74574248-74574249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557073199	chr6:74574297-74574298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555594497	chr6:74574313-74574314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553049389	chr6:74574375-74574376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145225797	chr6:74574383-74574384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577657317	chr6:74574396-74574397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544961680	chr6:74574399-74574400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187066551	chr6:74574427-74574428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576232222	chr6:74574435-74574436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534356837	chr6:74574445-74574446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112752083	chr6:74574448-74574449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191571401	chr6:74574461-74574462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577694349	chr6:74574534-74574535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9442982	chr6:74574542-74574543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559479078	chr6:74574590-74574591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199605608	chr6:74574616-74574617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532964396	chr6:74574634-74574635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112557486	chr6:74574645-74574646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140085648	chr6:74574710-74574711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75515045	chr6:74574784-74574785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559350988	chr6:74574785-74574786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537312173	chr6:74574842-74574843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112147376	chr6:74574904-74574905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549635915	chr6:74574923-74574924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557133613	chr6:74575012-74575013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373512407	chr6:74575117-74575118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73755081	chr6:74575132-74575133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553060024	chr6:74575139-74575140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577669368	chr6:74575185-74575186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541754532	chr6:74575196-74575197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538672641	chr6:74575233-74575234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575304270	chr6:74575255-74575256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182219421	chr6:74575265-74575266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575581191	chr6:74575391-74575392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542943758	chr6:74575404-74575405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543382421	chr6:74575436-74575437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77924527	chr6:74575509-74575510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573793038	chr6:74575588-74575589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187469934	chr6:74575645-74575646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs137894792	chr6:74575668-74575669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71555220	chr6:74575671-74575672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370777915	chr6:74575682-74575683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559491188	chr6:74575686-74575687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533031556	chr6:74575708-74575709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9447067	chr6:74575776-74575777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563170110	chr6:74575806-74575807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573162905	chr6:74575847-74575848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113128656	chr6:74575935-74575936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143734550	chr6:74575951-74575952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111756505	chr6:74575975-74575976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:74555400-74574400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:74556000-74576000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:74556800-74574400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:74562000-74577800	Weak transcription	Aorta	Aorta
6	chr6:74564800-74574800	Weak transcription	HUVEC	blood vessel
7	chr6:74565400-74575800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:74565600-74580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:74565800-74582800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:74567600-74576000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:74567600-74586200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:74567800-74576000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:74568800-74582400	Weak transcription	NHDF-Ad	bronchial
14	chr6:74569800-74576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:74571800-74575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:74572200-74580200	Weak transcription	HMEC	breast
17	chr6:74573800-74582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:74575400-74576000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:74576000-74576200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:74576000-74576200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr6:74576000-74576200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:74576000-74576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:74576000-74576400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:74576000-74576400	Enhancers	GM12878-XiMat	blood
25	chr6:74576200-74576400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:74576200-74580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:74576400-74577000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:74576400-74581800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:74576400-74582200	Weak transcription	Primary hematopoietic stem cells	blood

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