Variant report

Variant	nsv581399
Chromosome Location	chr2:35581997-35618740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
2	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
3	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
4	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
5	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
6	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
7	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
8	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:
9	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
10	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
11	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:

No data

Extended variants
information (count: 99 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545120904	chr2:35593606-35593607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188666295	chr2:35593609-35593610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192566790	chr2:35593628-35593629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567648668	chr2:35593631-35593632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7422355	chr2:35593659-35593660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184856029	chr2:35593676-35593677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529920967	chr2:35593698-35593699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529984705	chr2:35593713-35593714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17016519	chr2:35593750-35593751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188739189	chr2:35593775-35593776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538716486	chr2:35593776-35593777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191204547	chr2:35593781-35593782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537983631	chr2:35593792-35593793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4549067	chr2:35593804-35593805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534294767	chr2:35593811-35593812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554059480	chr2:35593817-35593818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73922233	chr2:35593858-35593859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542817273	chr2:35593904-35593905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4578835	chr2:35593916-35593917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368403348	chr2:35593937-35593938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576502920	chr2:35593944-35593945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370006486	chr2:35593947-35593948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377721906	chr2:35593953-35593954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545471307	chr2:35593967-35593968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114766505	chr2:35593996-35593997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572429577	chr2:35594032-35594033	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140124406	chr2:35594039-35594040	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4281882	chr2:35594043-35594044	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561167018	chr2:35594081-35594082	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183743577	chr2:35594094-35594095	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550038965	chr2:35594096-35594097	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563456540	chr2:35594112-35594113	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532135377	chr2:35594115-35594116	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76348663	chr2:35594211-35594212	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189194028	chr2:35594227-35594228	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534620614	chr2:35594298-35594299	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547738128	chr2:35594326-35594327	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs567666454	chr2:35594355-35594356	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536543751	chr2:35594366-35594367	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375009116	chr2:35594373-35594374	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541684889	chr2:35594478-35594479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182479653	chr2:35594496-35594497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538819837	chr2:35594519-35594520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186549856	chr2:35594558-35594559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577661739	chr2:35594590-35594591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572411464	chr2:35594593-35594594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190197954	chr2:35594605-35594606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541479822	chr2:35594625-35594626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4289164	chr2:35594631-35594632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555119275	chr2:35594651-35594652	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35593600-35594800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:35594000-35594400	Active TSS	Brain Angular Gyrus	brain
3	chr2:35594200-35594400	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:35597600-35598000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:35597600-35598000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:35601400-35601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:35616800-35617200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:35616800-35617200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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