Variant report

Variant	esv2764115
Chromosome Location	chr8:5587923-5608821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 643 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548812811	chr8:5588002-5588003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567346594	chr8:5588006-5588007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147146493	chr8:5588015-5588016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2669275	chr8:5588038-5588039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571168888	chr8:5588063-5588064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374441241	chr8:5588067-5588068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570093094	chr8:5588091-5588092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140264965	chr8:5588104-5588105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558467656	chr8:5588124-5588125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12544618	chr8:5588130-5588131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188659145	chr8:5588131-5588132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555690236	chr8:5588135-5588136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373378486	chr8:5588144-5588145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116549991	chr8:5588156-5588157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116107300	chr8:5588163-5588164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551292323	chr8:5588164-5588165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571071999	chr8:5588168-5588169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148193058	chr8:5588171-5588172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533850885	chr8:5588175-5588176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149702736	chr8:5588186-5588187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553622099	chr8:5588189-5588190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77585394	chr8:5590823-5590824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2669271	chr8:5590842-5590843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189295319	chr8:5590852-5590853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111275771	chr8:5590854-5590855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149313549	chr8:5590857-5590858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371340123	chr8:5590858-5590859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552953724	chr8:5590872-5590873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181996461	chr8:5590875-5590876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143448035	chr8:5590876-5590877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545834463	chr8:5590882-5590883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367896220	chr8:5590887-5590888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12549640	chr8:5590912-5590913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371946945	chr8:5590922-5590923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185005951	chr8:5590928-5590929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563636985	chr8:5590929-5590930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35775390	chr8:5590939-5590940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573009354	chr8:5590959-5590960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577777367	chr8:5590964-5590965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116472895	chr8:5590967-5590968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542856500	chr8:5590968-5590969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62487572	chr8:5591000-5591001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560813665	chr8:5591003-5591004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528195200	chr8:5591015-5591016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12679100	chr8:5591016-5591017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1707399	chr8:5591037-5591038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188053397	chr8:5591043-5591044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560770716	chr8:5591049-5591050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375923660	chr8:5591057-5591058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34162565	chr8:5591060-5591061	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Obesity	21131291	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5588000-5588200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:5590800-5591600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:5590800-5591800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:5590800-5592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:5591000-5591600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:5591200-5591400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:5595400-5596000	Enhancers	Dnd41	blood
8	chr8:5596000-5599000	Weak transcription	Dnd41	blood
9	chr8:5598800-5599600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:5599000-5599400	Enhancers	Esophagus	oesophagus
11	chr8:5599000-5600600	Enhancers	Dnd41	blood
12	chr8:5602400-5603000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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