Variant report

Variant	nsv609899
Chromosome Location	chr8:4815873-4828351
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	chr8:4826578..4828177-chr8:4829806..4832230,2	K562	blood:

Extended variants
information (count: 350 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:350 , 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	rs10503295	chr8:4815873-4815874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs28489494	chr8:4815875-4815876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78381907	chr8:4815883-4815884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560305620	chr8:4815921-4815922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571589299	chr8:4815956-4815957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140968126	chr8:4815958-4815959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529492799	chr8:4815959-4815960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557179340	chr8:4815969-4815970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569113092	chr8:4815975-4815976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537549630	chr8:4815977-4815978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377585206	chr8:4815999-4816000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190518163	chr8:4816004-4816005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573935967	chr8:4816012-4816013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10503296	chr8:4816030-4816031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553221298	chr8:4816053-4816054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78455631	chr8:4816071-4816072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545325010	chr8:4816092-4816093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563527903	chr8:4816096-4816097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112604351	chr8:4816097-4816098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75792893	chr8:4816104-4816105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542670460	chr8:4816126-4816127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145049513	chr8:4816134-4816135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528063343	chr8:4816146-4816147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376985693	chr8:4816152-4816153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138719497	chr8:4816158-4816159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185542611	chr8:4816176-4816177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190054208	chr8:4816208-4816209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551505108	chr8:4816213-4816214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182695318	chr8:4816215-4816216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111473237	chr8:4816218-4816219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536067434	chr8:4816265-4816266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143259557	chr8:4816282-4816283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35443350	chr8:4816295-4816296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571642521	chr8:4816300-4816301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187817421	chr8:4816308-4816309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554344737	chr8:4816312-4816313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373246354	chr8:4816349-4816350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6982358	chr8:4816363-4816364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs190611382	chr8:4816366-4816367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538941761	chr8:4816381-4816382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113841483	chr8:4816400-4816401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560353570	chr8:4816421-4816422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12674915	chr8:4816422-4816423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542875774	chr8:4816423-4816424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184055687	chr8:4816427-4816428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575472976	chr8:4816432-4816433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544525742	chr8:4816439-4816440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563911272	chr8:4816480-4816481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11996295	chr8:4816492-4816493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs75422072	chr8:4816497-4816498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4815800-4818000	Weak transcription	Fetal Brain Male	brain
2	chr8:4816600-4817000	Enhancers	Fetal Heart	heart
3	chr8:4816800-4817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:4816800-4817200	Enhancers	Esophagus	oesophagus
5	chr8:4817000-4817200	Flanking Active TSS	Fetal Heart	heart
6	chr8:4817200-4817800	Enhancers	Fetal Heart	heart
7	chr8:4818000-4818200	Enhancers	Fetal Brain Male	brain
8	chr8:4818200-4818800	Weak transcription	Fetal Brain Male	brain
9	chr8:4818800-4819000	Enhancers	Fetal Brain Male	brain
10	chr8:4822000-4822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:4824400-4824800	Enhancers	Fetal Heart	heart

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