Variant report

Variant	nsv609741
Chromosome Location	chr8:3482819-3487768
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	chr8:3482781..3484971-chr8:3489836..3491508,2	K562	blood:

Extended variants
information (count: 214 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2469311	chr8:3485400-3485401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145248776	chr8:3485415-3485416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530837689	chr8:3485433-3485434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7003559	chr8:3485472-3485473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7004692	chr8:3485488-3485489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375594761	chr8:3485506-3485507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547146567	chr8:3485515-3485516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188978640	chr8:3485520-3485521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140061059	chr8:3485533-3485534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181091390	chr8:3485554-3485555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79801224	chr8:3485583-3485584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143604907	chr8:3485619-3485620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146781580	chr8:3485623-3485624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368743991	chr8:3485630-3485631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75684720	chr8:3485631-3485632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143818580	chr8:3485642-3485643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372383182	chr8:3485644-3485645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552831657	chr8:3485680-3485681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151101331	chr8:3485681-3485682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17396710	chr8:3485700-3485701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191558626	chr8:3485716-3485717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201585434	chr8:3485717-3485718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575476111	chr8:3485733-3485734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542965872	chr8:3485744-3485745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561148316	chr8:3485755-3485756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573312101	chr8:3485761-3485762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532057876	chr8:3485766-3485767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545245543	chr8:3485815-3485816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141050303	chr8:3485816-3485817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2449218	chr8:3485819-3485820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532646423	chr8:3485826-3485827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532824089	chr8:3485860-3485861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150233644	chr8:3485867-3485868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530209207	chr8:3485881-3485882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182534676	chr8:3485882-3485883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377251470	chr8:3485901-3485902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10097561	chr8:3485909-3485910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4875762	chr8:3485912-3485913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546579919	chr8:3485922-3485923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138747017	chr8:3485926-3485927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538742739	chr8:3485929-3485930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142734057	chr8:3485937-3485938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575540906	chr8:3485958-3485959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186261660	chr8:3486006-3486007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76403416	chr8:3486009-3486010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554945183	chr8:3486074-3486075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550864140	chr8:3486076-3486077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74491719	chr8:3486085-3486086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76517239	chr8:3486090-3486091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565295112	chr8:3486091-3486092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3485400-3487800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:3487600-3488600	Enhancers	Cortex derived primary cultured neurospheres	brain

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