Variant report

Variant	esv1003277
Chromosome Location	chr8:47792684-47804772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530890524	chr8:47803220-47803221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17363370	chr8:47803222-47803223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536860524	chr8:47803236-47803237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189312931	chr8:47803251-47803252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62540206	chr8:47803267-47803268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567673046	chr8:47803300-47803301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181615067	chr8:47803304-47803305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547222296	chr8:47803308-47803309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571959123	chr8:47803368-47803369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186283874	chr8:47803369-47803370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557763235	chr8:47803370-47803371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75147320	chr8:47803387-47803388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149914296	chr8:47803447-47803448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191812594	chr8:47803454-47803455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145989206	chr8:47803455-47803456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115541529	chr8:47803519-47803520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183140322	chr8:47803540-47803541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577515150	chr8:47803558-47803559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139929617	chr8:47803562-47803563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553394745	chr8:47803606-47803607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143431322	chr8:47803654-47803655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530903780	chr8:47803660-47803661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186427024	chr8:47803708-47803709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146758537	chr8:47803782-47803783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373711043	chr8:47803853-47803854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561391515	chr8:47803860-47803861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528617548	chr8:47803871-47803872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372845129	chr8:47803877-47803878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547211780	chr8:47803884-47803885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376951814	chr8:47803928-47803929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190869107	chr8:47803935-47803936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148913494	chr8:47803961-47803962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551261153	chr8:47803976-47803977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376835680	chr8:47803983-47803984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569472606	chr8:47803985-47803986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368188631	chr8:47803986-47803987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555593724	chr8:47803995-47803996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537006123	chr8:47804000-47804001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573176227	chr8:47804007-47804008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182098264	chr8:47804023-47804024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567346547	chr8:47804029-47804030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4872970	chr8:47804072-47804073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552730569	chr8:47804078-47804079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369512367	chr8:47804081-47804082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577451650	chr8:47804098-47804099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544822839	chr8:47804115-47804116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73576888	chr8:47804138-47804139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575456477	chr8:47804186-47804187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372452902	chr8:47804191-47804192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545336610	chr8:47804256-47804257	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47803200-47805200	Enhancers	Placenta	Placenta
2	chr8:47804400-47804800	Active TSS	Fetal Heart	heart

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