Variant report

Variant	nsv523757
Chromosome Location	chr8:6223125-6224092
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	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184062196	chr8:6223613-6223614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530188197	chr8:6223618-6223619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571353747	chr8:6223630-6223631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112531113	chr8:6223631-6223632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557066695	chr8:6223635-6223636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149642326	chr8:6223637-6223638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368425621	chr8:6223647-6223648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536720120	chr8:6223648-6223649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13269374	chr8:6223675-6223676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192473172	chr8:6223676-6223677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563693524	chr8:6223692-6223693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116600438	chr8:6223723-6223724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13269618	chr8:6223732-6223733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545426531	chr8:6223745-6223746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375400690	chr8:6223746-6223747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183894296	chr8:6223750-6223751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3098003	chr8:6223757-6223758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552588747	chr8:6223813-6223814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566536111	chr8:6223815-6223816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543460995	chr8:6223827-6223828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368927083	chr8:6223831-6223832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563247010	chr8:6223839-6223840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528983575	chr8:6223854-6223855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539250156	chr8:6223881-6223882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566412453	chr8:6223906-6223907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186681441	chr8:6223918-6223919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151216335	chr8:6223926-6223927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528284244	chr8:6223932-6223933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191838582	chr8:6223939-6223940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11786052	chr8:6223995-6223996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375369211	chr8:6224003-6224004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530682449	chr8:6224023-6224024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550581250	chr8:6224024-6224025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140418664	chr8:6224025-6224026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117840060	chr8:6224028-6224029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1550693	chr8:6224035-6224036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547594499	chr8:6224040-6224041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150347790	chr8:6224078-6224079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184593378	chr8:6224080-6224081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559162364	chr8:6224083-6224084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537114110	chr8:6224090-6224091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2920629	chr8:6224092-6224093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:134)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Myelofibrosis	22110671	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
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6223600-6224600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:6223800-6224400	Enhancers	HepG2	liver

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