Variant report

Variant	esv3428429
Chromosome Location	chr8:4906519-4908667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4902858..4905778-chr8:4907306..4909304,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565330125	chr8:4908008-4908009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577286280	chr8:4908029-4908030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544164300	chr8:4908032-4908033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562574894	chr8:4908033-4908034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530310007	chr8:4908036-4908037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7002562	chr8:4908073-4908074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187708025	chr8:4908078-4908079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370900798	chr8:4908097-4908098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552499032	chr8:4908111-4908112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570499482	chr8:4908122-4908123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190665280	chr8:4908129-4908130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147085835	chr8:4908137-4908138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568109061	chr8:4908164-4908165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535738405	chr8:4908169-4908170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553992597	chr8:4908171-4908172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572250608	chr8:4908180-4908181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183426417	chr8:4908188-4908189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535289275	chr8:4908189-4908190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78600052	chr8:4908200-4908201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188477146	chr8:4908241-4908242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544329866	chr8:4908265-4908266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2977706	chr8:4908298-4908299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574535619	chr8:4908314-4908315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73661823	chr8:4908320-4908321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs367736354	chr8:4908329-4908330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2977707	chr8:4908332-4908333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138593914	chr8:4908365-4908366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563970656	chr8:4908366-4908367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192729641	chr8:4908369-4908370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144070172	chr8:4908383-4908384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531429390	chr8:4908389-4908390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549941423	chr8:4908392-4908393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568170169	chr8:4908484-4908485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536155705	chr8:4908492-4908493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7836394	chr8:4908497-4908498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547096560	chr8:4908498-4908499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560644210	chr8:4908512-4908513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565928614	chr8:4908526-4908527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs41343644	chr8:4908527-4908528	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs543255364	chr8:4908543-4908544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79783768	chr8:4908547-4908548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537942288	chr8:4908548-4908549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556201375	chr8:4908561-4908562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372830000	chr8:4908592-4908593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574599008	chr8:4908597-4908598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2977708	chr8:4908603-4908604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116735814	chr8:4908622-4908623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184776767	chr8:4908629-4908630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376501091	chr8:4908634-4908635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369004545	chr8:4908636-4908637	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Ductal carcinoma	22052326	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4908000-4909400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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