Variant report

Variant	nsv512029
Chromosome Location	chr8:6789691-6791272
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	chr8:6775337..6778035-chr8:6790742..6792474,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527988203	chr8:6789708-6789709	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565532738	chr8:6789710-6789711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547340338	chr8:6789716-6789717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73195966	chr8:6789736-6789737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2702858	chr8:6789786-6789787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141014182	chr8:6789797-6789798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567849679	chr8:6789801-6789802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201105321	chr8:6789821-6789822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371134886	chr8:6789826-6789827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2977818	chr8:6789830-6789831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548092256	chr8:6789843-6789844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2702859	chr8:6789844-6789845	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534073767	chr8:6789854-6789855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11289884	chr8:6789855-6789856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115317277	chr8:6789872-6789873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13274891	chr8:6789884-6789885	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539469508	chr8:6789905-6789906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144974457	chr8:6789920-6789921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370513231	chr8:6789929-6789930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542371652	chr8:6789935-6789936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562146982	chr8:6789940-6789941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375245267	chr8:6789946-6789947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79350116	chr8:6789964-6789965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550863033	chr8:6789973-6789974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541317308	chr8:6789975-6789976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13250769	chr8:6789984-6789985	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533127738	chr8:6790010-6790011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557772892	chr8:6790094-6790095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151295467	chr8:6790103-6790104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72494229	chr8:6790113-6790114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549501027	chr8:6790122-6790123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568249347	chr8:6790142-6790143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140570668	chr8:6790149-6790150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546661718	chr8:6790160-6790161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547691192	chr8:6790166-6790167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570783954	chr8:6790182-6790183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539386190	chr8:6790205-6790206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150040086	chr8:6790240-6790241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2702860	chr8:6790242-6790243	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535195440	chr8:6790248-6790249	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs192123882	chr8:6790270-6790271	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs2702861	chr8:6790324-6790325	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183223585	chr8:6790325-6790326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557993294	chr8:6790342-6790343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs116519011	chr8:6790378-6790379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145232647	chr8:6790393-6790394	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10097403	chr8:6790395-6790396	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186827580	chr8:6790397-6790398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs141300539	chr8:6790408-6790409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559911944	chr8:6790411-6790412	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	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
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
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6785600-6789800	Flanking Active TSS	Dnd41	blood
2	chr8:6785800-6798800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:6789200-6791800	Weak transcription	Fetal Thymus	thymus
4	chr8:6789400-6791600	Weak transcription	Thymus	Thymus
5	chr8:6789800-6790200	Enhancers	Dnd41	blood
6	chr8:6790200-6790600	Flanking Active TSS	Dnd41	blood
7	chr8:6790600-6791400	Enhancers	Dnd41	blood

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