Variant report

Variant	nsv526570
Chromosome Location	chr8:2909351-2911516
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	chr8:2910108..2911963-chr8:2912249..2914943,2	K562	blood:

Extended variants
information (count: 151 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13249456	chr8:2909351-2909352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577165960	chr8:2909361-2909362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545780140	chr8:2909364-2909365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559469123	chr8:2909371-2909372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79048421	chr8:2909391-2909392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139216873	chr8:2909495-2909496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540266729	chr8:2909520-2909521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142494224	chr8:2909523-2909524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550200668	chr8:2909585-2909586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9314471	chr8:2909623-2909624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539292095	chr8:2909639-2909640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552611311	chr8:2909646-2909647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73488474	chr8:2909647-2909648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73488476	chr8:2909651-2909652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13257299	chr8:2909680-2909681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542345587	chr8:2909690-2909691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537553952	chr8:2909697-2909698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145963453	chr8:2909727-2909728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192902064	chr8:2909747-2909748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546042625	chr8:2909750-2909751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117501953	chr8:2909797-2909798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572971890	chr8:2909798-2909799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541705294	chr8:2909827-2909828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575801068	chr8:2909837-2909838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77669439	chr8:2909841-2909842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543925661	chr8:2909856-2909857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563705339	chr8:2909859-2909860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371147775	chr8:2909865-2909866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532823705	chr8:2909867-2909868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185096486	chr8:2909873-2909874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552816616	chr8:2909880-2909881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566294111	chr8:2909903-2909904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528677230	chr8:2909914-2909915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548761688	chr8:2909917-2909918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568671116	chr8:2909925-2909926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537511841	chr8:2909939-2909940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557503945	chr8:2909945-2909946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570805995	chr8:2909960-2909961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370169110	chr8:2909984-2909985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373345867	chr8:2909991-2909992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6558702	chr8:2909992-2909993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573094142	chr8:2909993-2909994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370012708	chr8:2909995-2909996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35098282	chr8:2910006-2910007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6558703	chr8:2910020-2910021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370416980	chr8:2910039-2910040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375338174	chr8:2910064-2910065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35071327	chr8:2910075-2910076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543888466	chr8:2910084-2910085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563866688	chr8:2910093-2910094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Cancer	20164919	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2907400-2911400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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