Variant report

Variant	esv1819797
Chromosome Location	chr8:6122531-6128828
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	chr8:6117190..6120021-chr8:6122326..6123985,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73192615	chr8:6122536-6122537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569482303	chr8:6122537-6122538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538494253	chr8:6122540-6122541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557097768	chr8:6122570-6122571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185679592	chr8:6122577-6122578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567215162	chr8:6122620-6122621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535838989	chr8:6122647-6122648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202158733	chr8:6122653-6122654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11782166	chr8:6122654-6122655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373187925	chr8:6122655-6122656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201324633	chr8:6122667-6122668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538481430	chr8:6122693-6122694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190532769	chr8:6122730-6122731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183107491	chr8:6122752-6122753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552729228	chr8:6122765-6122766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544448179	chr8:6122779-6122780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561134655	chr8:6122782-6122783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs118070365	chr8:6122854-6122855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188826918	chr8:6122876-6122877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187307634	chr8:6122887-6122888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190952137	chr8:6122893-6122894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552817729	chr8:6122901-6122902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182712097	chr8:6122904-6122905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188227060	chr8:6122955-6122956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190442605	chr8:6122963-6122964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182697887	chr8:6122985-6122986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568660057	chr8:6123001-6123002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386721733	chr8:6123002-6123003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76567750	chr8:6123003-6123004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566247091	chr8:6123051-6123052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73192617	chr8:6123058-6123059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187390314	chr8:6123075-6123076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568992739	chr8:6123081-6123082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537634409	chr8:6123087-6123088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564262419	chr8:6123122-6123123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533139246	chr8:6123126-6123127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17466210	chr8:6123137-6123138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs574761988	chr8:6123147-6123148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192228738	chr8:6123169-6123170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146464184	chr8:6123197-6123198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554172815	chr8:6123200-6123201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543354517	chr8:6128222-6128223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531209264	chr8:6128227-6128228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563237410	chr8:6128234-6128235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187863466	chr8:6128249-6128250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191223075	chr8:6128274-6128275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559607819	chr8:6128285-6128286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528557336	chr8:6128298-6128299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375184459	chr8:6128312-6128313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551684815	chr8:6128320-6128321	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6122200-6123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:6128200-6128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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