Variant report

Variant	esv3325703
Chromosome Location	chr8:60564123-60566421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564854437	chr8:60564139-60564140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6471795	chr8:60564143-60564144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541124717	chr8:60564156-60564157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559517823	chr8:60564191-60564192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4272364	chr8:60564206-60564207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548371157	chr8:60564215-60564216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184269230	chr8:60564250-60564251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4439115	chr8:60564275-60564276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543814667	chr8:60564320-60564321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144281835	chr8:60564332-60564333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552197786	chr8:60564346-60564347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73680627	chr8:60564353-60564354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189217232	chr8:60564376-60564377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148465336	chr8:60564497-60564498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181083472	chr8:60564527-60564528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7813801	chr8:60564558-60564559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142539990	chr8:60564629-60564630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184079491	chr8:60564645-60564646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540114497	chr8:60564677-60564678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188643812	chr8:60564714-60564715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576885285	chr8:60564758-60564759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528683673	chr8:60564772-60564773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12543325	chr8:60564806-60564807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181476393	chr8:60564813-60564814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559405347	chr8:60564830-60564831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7814268	chr8:60564848-60564849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530490589	chr8:60564849-60564850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572802960	chr8:60564870-60564871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538631758	chr8:60564930-60564931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557072865	chr8:60564931-60564932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12548269	chr8:60564973-60564974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12541006	chr8:60564975-60564976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569288060	chr8:60564980-60564981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60749554	chr8:60565001-60565002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7832822	chr8:60565013-60565014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7814444	chr8:60565014-60565015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182132828	chr8:60565027-60565028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536456345	chr8:60565028-60565029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35048286	chr8:60565036-60565037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555111572	chr8:60565037-60565038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185920146	chr8:60565049-60565050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59090496	chr8:60565060-60565061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7832950	chr8:60565061-60565062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7814579	chr8:60565062-60565063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61164095	chr8:60565083-60565084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190840176	chr8:60565084-60565085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5008399	chr8:60565105-60565106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185644422	chr8:60565107-60565108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530658282	chr8:60565108-60565109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573481461	chr8:60565122-60565123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60563000-60564400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr8:60564400-60569800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:60564600-60565600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:60565800-60566000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:60566200-60566800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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