Variant report

Variant	esv3421475
Chromosome Location	chr8:4917297-4921632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
2	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
3	chr8:4914258..4917095-chr8:4917428..4919602,2	K562	blood:
4	chr8:4919600..4920385-chr8:6687720..6688260,2	K562	blood:

Extended variants
information (count: 302 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564201633	chr8:4917402-4917403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141695055	chr8:4917445-4917446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17072168	chr8:4917461-4917462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570304442	chr8:4917502-4917503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567870153	chr8:4917537-4917538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80337800	chr8:4917539-4917540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150524736	chr8:4917540-4917541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528154414	chr8:4917545-4917546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200897877	chr8:4917559-4917560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566648322	chr8:4917572-4917573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547856710	chr8:4917583-4917584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201581229	chr8:4917585-4917586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34454144	chr8:4917587-4917588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184814749	chr8:4917628-4917629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558945659	chr8:4917630-4917631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571047598	chr8:4917660-4917661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114776892	chr8:4917663-4917664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17072170	chr8:4917724-4917725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550898011	chr8:4917734-4917735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139859229	chr8:4917737-4917738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs5889084	chr8:4917744-4917745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386721437	chr8:4917750-4917751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200865696	chr8:4917751-4917752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201974717	chr8:4917752-4917753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201239946	chr8:4917753-4917754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201507711	chr8:4917754-4917755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5889085	chr8:4917761-4917762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528557819	chr8:4917762-4917763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189215970	chr8:4917796-4917797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200553969	chr8:4917824-4917825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376799500	chr8:4917855-4917856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144448630	chr8:4917872-4917873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564146534	chr8:4917886-4917887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531501381	chr8:4917900-4917901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542858485	chr8:4917911-4917912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1869521	chr8:4917914-4917915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs140198693	chr8:4917929-4917930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181580031	chr8:4917931-4917932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566612149	chr8:4917943-4917944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75215286	chr8:4917947-4917948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552285829	chr8:4917958-4917959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570777279	chr8:4917962-4917963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537861153	chr8:4917972-4917973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556860982	chr8:4917973-4917974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186532552	chr8:4917991-4917992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547000007	chr8:4918002-4918003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536033369	chr8:4918005-4918006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554438428	chr8:4918025-4918026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572036098	chr8:4918036-4918037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552757726	chr8:4918063-4918064	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4917400-4918000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:4917400-4918600	Enhancers	Brain Cingulate Gyrus	brain
3	chr8:4917600-4918200	Enhancers	Brain Hippocampus Middle	brain
4	chr8:4917800-4918200	Enhancers	Brain Anterior Caudate	brain
5	chr8:4918000-4918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:4918000-4918200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:4918000-4918600	Enhancers	Esophagus	oesophagus
8	chr8:4918200-4920200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:4920000-4920200	Enhancers	Brain Anterior Caudate	brain
10	chr8:4920000-4920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:4920200-4920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:4920200-4920600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:4920200-4920600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:4920200-4920600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:4920200-4920600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:4920200-4920600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:4920200-4920600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:4920200-4920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:4920200-4920600	Enhancers	Brain Hippocampus Middle	brain
20	chr8:4920200-4921400	Enhancers	Fetal Lung	lung
21	chr8:4920400-4920600	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:4920400-4920600	Enhancers	A549	lung

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