Variant report

Variant	esv3361633
Chromosome Location	chr6:74420581-74422579
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	chr6:74419143..74420803-chr6:74446102..74448832,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575848212	chr6:74420613-74420614	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77113243	chr6:74420626-74420627	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7739455	chr6:74420628-74420629	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573373502	chr6:74420633-74420634	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535666917	chr6:74420653-74420654	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9446992	chr6:74420655-74420656	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs565268207	chr6:74420727-74420728	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571848979	chr6:74420788-74420789	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539150398	chr6:74420795-74420796	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376927172	chr6:74420815-74420816	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557291426	chr6:74420834-74420835	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370172665	chr6:74420884-74420885	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543731944	chr6:74420895-74420896	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs562434405	chr6:74420950-74420951	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574138667	chr6:74420966-74420967	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534041943	chr6:74420970-74420971	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs72953385	chr6:74421023-74421024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538194343	chr6:74421099-74421100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533415509	chr6:74421111-74421112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556328967	chr6:74421122-74421123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550203095	chr6:74421143-74421144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372067837	chr6:74421152-74421153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551911288	chr6:74421158-74421159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374482506	chr6:74421204-74421205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189370435	chr6:74421207-74421208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549784614	chr6:74421248-74421249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372829764	chr6:74421262-74421263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201250963	chr6:74421263-74421264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199575937	chr6:74421264-74421265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113703133	chr6:74421267-74421268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376657587	chr6:74421269-74421270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568377854	chr6:74421558-74421559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375640067	chr6:74421559-74421560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547236803	chr6:74421595-74421596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565547841	chr6:74421658-74421659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9446993	chr6:74421677-74421678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs557453522	chr6:74421765-74421766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575927633	chr6:74421800-74421801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181701294	chr6:74421801-74421802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36145311	chr6:74421817-74421818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555778255	chr6:74421864-74421865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574324993	chr6:74421888-74421889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148806797	chr6:74421901-74421902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578241976	chr6:74421918-74421919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59062540	chr6:74421923-74421924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3045855	chr6:74421932-74421933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398001980	chr6:74421941-74421942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373940360	chr6:74421942-74421943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61358668	chr6:74421944-74421945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs33997622	chr6:74422049-74422050	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
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74407200-74421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:74407200-74422400	Weak transcription	Fetal Lung	lung
3	chr6:74407200-74423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:74407200-74424800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:74407400-74423000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:74407600-74424000	Weak transcription	Right Ventricle	heart
7	chr6:74408000-74446800	Weak transcription	Dnd41	blood
8	chr6:74412800-74423600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:74413600-74422200	Weak transcription	Fetal Heart	heart
10	chr6:74414400-74423000	Weak transcription	Primary T cells from cord blood	blood
11	chr6:74414400-74423200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:74414400-74424000	Weak transcription	Placenta	Placenta
13	chr6:74414600-74423000	Weak transcription	Fetal Thymus	thymus
14	chr6:74414800-74422600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:74414800-74423200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:74415000-74420600	Weak transcription	HSMMtube	muscle
18	chr6:74415200-74422200	Weak transcription	Adipose Nuclei	Adipose
19	chr6:74415200-74422400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:74415200-74423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:74415200-74432200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:74415400-74420600	Weak transcription	NHLF	lung
23	chr6:74417000-74423200	Weak transcription	Lung	lung
24	chr6:74417000-74424000	Weak transcription	Esophagus	oesophagus
25	chr6:74417400-74422200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:74417400-74423400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:74417400-74423800	Weak transcription	Thymus	Thymus
28	chr6:74417600-74420600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:74420000-74420800	Enhancers	NHEK	skin
30	chr6:74420000-74421000	Enhancers	HUVEC	blood vessel
31	chr6:74420200-74420600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:74420200-74420600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:74420200-74420800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:74420200-74420800	Flanking Active TSS	A549	lung
35	chr6:74420200-74421000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:74420200-74421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:74420200-74421000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:74420200-74421000	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:74420200-74421000	Enhancers	Hela-S3	cervix
40	chr6:74420200-74421000	Enhancers	HSMM	muscle
41	chr6:74420200-74421000	Genic enhancers	NHDF-Ad	bronchial
42	chr6:74420200-74421200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:74420200-74421200	Enhancers	HMEC	breast
44	chr6:74420200-74422400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:74420200-74422600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:74420200-74422600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:74420400-74420600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:74420400-74420600	Enhancers	Right Atrium	heart
49	chr6:74420400-74420600	Enhancers	Osteobl	bone
50	chr6:74420400-74420800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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