Variant report

Variant	nsv522079
Chromosome Location	chr2:34398738-34403344
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	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192496446	chr2:34399203-34399204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574710737	chr2:34399232-34399233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6719943	chr2:34399249-34399250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34946063	chr2:34399269-34399270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563316592	chr2:34399288-34399289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77873716	chr2:34399320-34399321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141687515	chr2:34399349-34399350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559538337	chr2:34399409-34399410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368307413	chr2:34399428-34399429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537346642	chr2:34399432-34399433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527879602	chr2:34399497-34399498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548044587	chr2:34399520-34399521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200899557	chr2:34399522-34399523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76302385	chr2:34399538-34399539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530448896	chr2:34399559-34399560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76015591	chr2:34399564-34399565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570043478	chr2:34399620-34399621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75344016	chr2:34399627-34399628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150104923	chr2:34399629-34399630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565873361	chr2:34399642-34399643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73929626	chr2:34399660-34399661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184417512	chr2:34399676-34399677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574616879	chr2:34399710-34399711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138600443	chr2:34399819-34399820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576956526	chr2:34399887-34399888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556638788	chr2:34399895-34399896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541119412	chr2:34399937-34399938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552823223	chr2:34399959-34399960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79313284	chr2:34399960-34399961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112172870	chr2:34400015-34400016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544682253	chr2:34400021-34400022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60830040	chr2:34400033-34400034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369002050	chr2:34400034-34400035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386389896	chr2:34400035-34400036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71409683	chr2:34400036-34400037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10624822	chr2:34400041-34400042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397702583	chr2:34400045-34400046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563540105	chr2:34400053-34400054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528226727	chr2:34400121-34400122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142797580	chr2:34400130-34400131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531067704	chr2:34400159-34400160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561548999	chr2:34400196-34400197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573230960	chr2:34401801-34401802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140717600	chr2:34401835-34401836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561957227	chr2:34401882-34401883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530996739	chr2:34401894-34401895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544386216	chr2:34401895-34401896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574931241	chr2:34401928-34401929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371818540	chr2:34401929-34401930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564620164	chr2:34402027-34402028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34399200-34400200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:34401800-34402000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34402000-34402800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34402800-34403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:34403000-34403800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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