Variant report

Variant	nsv523461
Chromosome Location	chr2:35702533-35713309
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	chr2:35694136..35697118-chr2:35710618..35713142,3	MCF-7	breast:
2	chr2:35696604..35698364-chr2:35701530..35703785,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207255	chromatin interactions
ENSG00000265301	chromatin interactions
ENSG00000229013	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11688061	chr2:35702533-35702534	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574067580	chr2:35702540-35702541	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11693441	chr2:35702588-35702589	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556801650	chr2:35702591-35702592	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576603108	chr2:35702594-35702595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146020649	chr2:35702598-35702599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs193266583	chr2:35702609-35702610	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185678318	chr2:35702611-35702612	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113263270	chr2:35702623-35702624	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35314558	chr2:35702625-35702626	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190147949	chr2:35702647-35702648	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs76598136	chr2:35702651-35702652	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11682230	chr2:35702655-35702656	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75211331	chr2:35702711-35702712	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192992002	chr2:35702712-35702713	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs139977738	chr2:35702713-35702714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551243386	chr2:35702725-35702726	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532253096	chr2:35702729-35702730	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552358817	chr2:35702747-35702748	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11693497	chr2:35702752-35702753	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528195627	chr2:35702762-35702763	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547860895	chr2:35702779-35702780	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs367658236	chr2:35702789-35702790	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567753804	chr2:35702790-35702791	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569457481	chr2:35702796-35702797	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs56053627	chr2:35702826-35702827	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558466529	chr2:35702845-35702846	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556632964	chr2:35702878-35702879	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2719106	chr2:35702893-35702894	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538920374	chr2:35702918-35702919	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374898514	chr2:35702944-35702945	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs559118931	chr2:35702967-35702968	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141697319	chr2:35702976-35702977	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs367932779	chr2:35703040-35703041	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144573477	chr2:35703042-35703043	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs368643589	chr2:35703054-35703055	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555083480	chr2:35703076-35703077	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs57242898	chr2:35703120-35703121	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534232503	chr2:35703128-35703129	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543796286	chr2:35703151-35703152	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563487496	chr2:35703162-35703163	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532452475	chr2:35703178-35703179	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545751750	chr2:35703194-35703195	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184012442	chr2:35703251-35703252	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528257403	chr2:35703278-35703279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188697167	chr2:35703293-35703294	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567815409	chr2:35703326-35703327	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs62143349	chr2:35703333-35703334	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550556596	chr2:35703339-35703340	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570316196	chr2:35703340-35703341	Inactive region	Chromatin interactive region	2 gene(s)	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
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	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35711600-35711800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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