Variant report

Variant	esv3417774
Chromosome Location	chr6:78036133-78040731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9443400	chr6:78036137-78036138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571153270	chr6:78036191-78036192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192735265	chr6:78036208-78036209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552168225	chr6:78036209-78036210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568934323	chr6:78036273-78036274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146017724	chr6:78036309-78036310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377650971	chr6:78036391-78036392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539328832	chr6:78036424-78036425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370682321	chr6:78036456-78036457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574673173	chr6:78036468-78036469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563953793	chr6:78036473-78036474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534024265	chr6:78036479-78036480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373973846	chr6:78036526-78036527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373013554	chr6:78036542-78036543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139920658	chr6:78036546-78036547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142150064	chr6:78036550-78036551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184051499	chr6:78036559-78036560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375745719	chr6:78036572-78036573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78788486	chr6:78036631-78036632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151277773	chr6:78036633-78036634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112072488	chr6:78036655-78036656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561881351	chr6:78036658-78036659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114804598	chr6:78036678-78036679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547992934	chr6:78036690-78036691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61003419	chr6:78036711-78036712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533690693	chr6:78036719-78036720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551842807	chr6:78036722-78036723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568870201	chr6:78036752-78036753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147665528	chr6:78036791-78036792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548288359	chr6:78036808-78036809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568186713	chr6:78036837-78036838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12202106	chr6:78036900-78036901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553947061	chr6:78036954-78036955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570614526	chr6:78036985-78036986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557127277	chr6:78036995-78036996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142322069	chr6:78037003-78037004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75256805	chr6:78037033-78037034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146905946	chr6:78037063-78037064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558628708	chr6:78037114-78037115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541850910	chr6:78037143-78037144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72898730	chr6:78037154-78037155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572224480	chr6:78037167-78037168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541228000	chr6:78037179-78037180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564708545	chr6:78037198-78037199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72898733	chr6:78037218-78037219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571122122	chr6:78037226-78037227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544082384	chr6:78037286-78037287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113290623	chr6:78037442-78037443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373877918	chr6:78037458-78037459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139322729	chr6:78037480-78037481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
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
Acute lymphoblastic leukemia	21098271	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78017200-78042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:78033600-78042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:78034600-78036600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:78035200-78036400	Enhancers	Osteobl	bone
5	chr6:78036400-78037400	Weak transcription	Osteobl	bone
6	chr6:78037600-78037800	Enhancers	Osteobl	bone
7	chr6:78040400-78041600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:78040400-78042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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