Variant report

Variant	esv1000355
Chromosome Location	chr6:81624939-81632971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs477875	chr6:81630875-81630876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562548845	chr6:81630891-81630892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76238149	chr6:81630905-81630906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111493692	chr6:81630917-81630918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146416139	chr6:81630919-81630920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556458	chr6:81630960-81630961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs149072106	chr6:81630964-81630965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79419055	chr6:81630972-81630973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143074931	chr6:81630973-81630974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550444415	chr6:81630975-81630976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570238920	chr6:81630988-81630989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9449187	chr6:81630991-81630992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116257225	chr6:81630992-81630993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77570882	chr6:81630994-81630995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185565897	chr6:81631013-81631014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565693465	chr6:81631033-81631034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368793361	chr6:81631044-81631045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534278420	chr6:81631047-81631048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557845985	chr6:81631050-81631051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571298050	chr6:81631059-81631060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560869320	chr6:81631078-81631079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556766210	chr6:81631112-81631113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573486176	chr6:81631134-81631135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527964127	chr6:81631139-81631140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189541745	chr6:81631186-81631187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552804178	chr6:81631220-81631221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369262338	chr6:81631221-81631222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142246369	chr6:81631253-81631254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552943868	chr6:81631258-81631259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113527923	chr6:81631269-81631270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140536313	chr6:81631285-81631286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375623597	chr6:81631318-81631319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs580317	chr6:81631326-81631327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533290518	chr6:81631342-81631343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543916034	chr6:81631358-81631359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150486982	chr6:81631407-81631408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529480618	chr6:81631410-81631411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375094478	chr6:81631437-81631438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549703262	chr6:81631452-81631453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566204674	chr6:81631468-81631469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114713082	chr6:81631471-81631472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373159589	chr6:81631473-81631474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551139199	chr6:81631476-81631477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182620790	chr6:81631482-81631483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115584126	chr6:81631484-81631485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556606233	chr6:81631509-81631510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369123478	chr6:81631543-81631544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539413	chr6:81631590-81631591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138577662	chr6:81631619-81631620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144068114	chr6:81631669-81631670	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81630800-81631800	Enhancers	Fetal Muscle Leg	muscle
2	chr6:81632000-81633800	Enhancers	Colon Smooth Muscle	Colon
3	chr6:81632200-81633000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:81632800-81634200	Enhancers	Rectal Smooth Muscle	rectum

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