Variant report

Variant	esv1850353
Chromosome Location	chr6:74591696-74605553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 285 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527360301	chr6:74591717-74591718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566127766	chr6:74591745-74591746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186979194	chr6:74591765-74591766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557755668	chr6:74591783-74591784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12523989	chr6:74591808-74591809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544143725	chr6:74591828-74591829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529401269	chr6:74591863-74591864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547531776	chr6:74591876-74591877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1370439	chr6:74591885-74591886	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191760294	chr6:74591891-74591892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533402333	chr6:74591952-74591953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560006975	chr6:74591991-74591992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76114631	chr6:74591992-74591993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371343663	chr6:74592021-74592022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183140295	chr6:74592022-74592023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564109417	chr6:74592043-74592044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200268224	chr6:74592063-74592064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187073956	chr6:74592199-74592200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550498677	chr6:74592204-74592205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1437573	chr6:74592225-74592226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76616953	chr6:74592248-74592249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375989746	chr6:74592297-74592298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537323590	chr6:74592355-74592356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548001021	chr6:74592369-74592370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191567607	chr6:74592375-74592376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539966728	chr6:74592387-74592388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139140774	chr6:74592445-74592446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569726146	chr6:74592631-74592632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537005220	chr6:74592640-74592641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567254450	chr6:74592687-74592688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111401934	chr6:74592725-74592726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55655304	chr6:74592762-74592763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535371495	chr6:74592775-74592776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56754096	chr6:74592820-74592821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76077721	chr6:74592849-74592850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545923610	chr6:74592850-74592851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552368577	chr6:74592922-74592923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571725426	chr6:74592966-74592967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60996490	chr6:74592980-74592981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77863611	chr6:74592983-74592984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9447073	chr6:74593006-74593007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561508877	chr6:74593095-74593096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144144145	chr6:74593100-74593101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554188522	chr6:74593118-74593119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547768013	chr6:74593125-74593126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200255177	chr6:74593128-74593129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201551977	chr6:74593129-74593130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200782963	chr6:74593139-74593140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66529711	chr6:74593140-74593141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145100129	chr6:74593281-74593282	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	chr6:74589400-74592600	Weak transcription	Fetal Kidney	kidney
2	chr6:74591200-74592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:74592600-74593000	Enhancers	Fetal Kidney	kidney
4	chr6:74593000-74597000	Weak transcription	Fetal Kidney	kidney
5	chr6:74594600-74595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:74595200-74596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:74596000-74596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:74596000-74597400	Enhancers	Primary T cells from cord blood	blood
9	chr6:74596000-74597400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:74596000-74597600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr6:74596000-74598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:74596200-74597000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:74596200-74597000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:74596200-74597000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:74596200-74597000	Enhancers	GM12878-XiMat	blood
16	chr6:74596200-74597400	Enhancers	Dnd41	blood
17	chr6:74596400-74597000	Enhancers	NH-A	brain
18	chr6:74596400-74597200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:74596400-74597600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:74596400-74597600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:74596600-74596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:74596600-74597000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:74596600-74597000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:74596600-74597000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:74596600-74597400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:74596600-74597400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:74596600-74597400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:74596600-74597600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:74596800-74598400	Enhancers	HUVEC	blood vessel
30	chr6:74597000-74597200	Enhancers	Fetal Kidney	kidney
31	chr6:74597400-74601200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:74601200-74601400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr6:74601200-74602000	ZNF genes & repeats	Aorta	Aorta
34	chr6:74602000-74602200	Weak transcription	Aorta	Aorta
35	chr6:74602200-74602400	Enhancers	Aorta	Aorta

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