Variant report

Variant	nsv511163
Chromosome Location	chr2:79075101-79085411
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	chr2:79084347..79087300-chr2:79103800..79106466,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142236679	chr2:79082829-79082830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188227007	chr2:79082839-79082840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560671223	chr2:79082854-79082855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192970770	chr2:79082951-79082952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542423520	chr2:79083040-79083041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550353484	chr2:79083058-79083059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185194394	chr2:79083084-79083085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532832882	chr2:79083121-79083122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146403658	chr2:79083181-79083182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112227210	chr2:79083208-79083209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557400977	chr2:79083277-79083278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566058903	chr2:79083282-79083283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535042067	chr2:79083286-79083287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1521965	chr2:79083305-79083306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568547754	chr2:79083422-79083423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139484826	chr2:79083426-79083427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556318991	chr2:79083452-79083453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576195934	chr2:79083458-79083459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536491245	chr2:79083464-79083465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540141227	chr2:79083471-79083472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533331674	chr2:79083472-79083473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369642874	chr2:79083480-79083481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6707481	chr2:79083525-79083526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369246826	chr2:79083616-79083617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558451834	chr2:79083639-79083640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6707613	chr2:79083666-79083667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540641354	chr2:79083725-79083726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188956850	chr2:79083753-79083754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574473076	chr2:79083756-79083757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558396113	chr2:79084213-79084214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17015740	chr2:79084215-79084216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534647072	chr2:79084220-79084221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112215578	chr2:79084262-79084263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188290350	chr2:79084335-79084336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180870815	chr2:79084341-79084342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574384099	chr2:79084442-79084443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28612822	chr2:79084488-79084489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563262193	chr2:79084501-79084502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577336136	chr2:79084603-79084604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561148095	chr2:79084604-79084605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546431715	chr2:79084640-79084641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372537647	chr2:79084645-79084646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560038645	chr2:79084650-79084651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528789699	chr2:79084653-79084654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139778414	chr2:79084680-79084681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561123224	chr2:79084724-79084725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186505343	chr2:79084726-79084727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189771268	chr2:79084768-79084769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528264308	chr2:79084781-79084782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547128247	chr2:79084920-79084921	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:79082800-79083800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:79084200-79085000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:79084600-79085400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:79084800-79085400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:79085000-79085400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:79085000-79085400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:79085400-79086000	Enhancers	Monocytes-CD14+_RO01746	blood

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