Variant report

Variant	nsv517738
Chromosome Location	chr2:34828378-34877933
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	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-3	chr2:34860316-34860407	ENSG00000226785

Extended variants
information (count: 114 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113943141	chr2:34829223-34829224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549289101	chr2:34829241-34829242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568878617	chr2:34829245-34829246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537813608	chr2:34829251-34829252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563731682	chr2:34829259-34829260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557902329	chr2:34829260-34829261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1819021	chr2:34829291-34829292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533862150	chr2:34829298-34829299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553336216	chr2:34829327-34829328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138837813	chr2:34829332-34829333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542124807	chr2:34829346-34829347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386644703	chr2:34829417-34829418	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142831421	chr2:34829419-34829420	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575259975	chr2:34829433-34829434	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544168459	chr2:34829450-34829451	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147271481	chr2:34829453-34829454	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377360522	chr2:34829477-34829478	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138833109	chr2:34829518-34829519	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112116892	chr2:34829535-34829536	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560130900	chr2:34829561-34829562	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529044795	chr2:34829574-34829575	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549301487	chr2:34829581-34829582	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4362537	chr2:34829588-34829589	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369961904	chr2:34829590-34829591	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539530573	chr2:34842227-34842228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139597932	chr2:34842243-34842244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188893148	chr2:34842251-34842252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573648068	chr2:34842252-34842253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541383207	chr2:34842263-34842264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181990444	chr2:34842270-34842271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113212365	chr2:34842322-34842323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189312181	chr2:34842339-34842340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6717661	chr2:34842351-34842352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563342068	chr2:34842373-34842374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532513840	chr2:34842374-34842375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545854539	chr2:34842406-34842407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559127889	chr2:34842431-34842432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528252808	chr2:34842437-34842438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76143965	chr2:34842451-34842452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568369694	chr2:34842457-34842458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35961997	chr2:34842463-34842464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2030941	chr2:34842489-34842490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180882883	chr2:34842517-34842518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530480114	chr2:34842568-34842569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374877886	chr2:34842646-34842647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539540530	chr2:34842651-34842652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553075232	chr2:34842673-34842674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79685243	chr2:34842675-34842676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535257190	chr2:34842726-34842727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111439110	chr2:34842739-34842740	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	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	chr2:34829200-34829600	Enhancers	Brain Germinal Matrix	brain
2	chr2:34829400-34829600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:34842200-34842800	Enhancers	Fetal Lung	lung
4	chr2:34860400-34861000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:34875600-34875800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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