Variant report

Variant	esv3516877
Chromosome Location	chr2:35006498-35008896
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	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147576	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59715752	chr2:35006508-35006509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71870117	chr2:35006509-35006510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181835739	chr2:35006510-35006511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186125234	chr2:35006515-35006516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142916302	chr2:35006522-35006523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191024739	chr2:35006526-35006527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145104871	chr2:35006528-35006529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538777451	chr2:35006567-35006568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546655484	chr2:35006578-35006579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180692154	chr2:35006592-35006593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138976699	chr2:35006599-35006600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186588553	chr2:35006632-35006633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568418042	chr2:35006644-35006645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537308675	chr2:35006654-35006655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556953989	chr2:35006718-35006719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576797678	chr2:35006721-35006722	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141617986	chr2:35006743-35006744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553415140	chr2:35006756-35006757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572993982	chr2:35006759-35006760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542000981	chr2:35006768-35006769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561816643	chr2:35006770-35006771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191034188	chr2:35006781-35006782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144502668	chr2:35006793-35006794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200511901	chr2:35006806-35006807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570269182	chr2:35006840-35006841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544483057	chr2:35006853-35006854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148394658	chr2:35006894-35006895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183098089	chr2:35006926-35006927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6706322	chr2:35006965-35006966	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560192611	chr2:35007002-35007003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35029022	chr2:35007042-35007043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554633033	chr2:35007058-35007059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs59261432	chr2:35007133-35007134	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141630869	chr2:35007201-35007202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568280741	chr2:35007212-35007213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11884196	chr2:35007228-35007229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550839190	chr2:35007248-35007249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140600090	chr2:35007254-35007255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543552413	chr2:35007266-35007267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539811122	chr2:35007272-35007273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572215782	chr2:35007287-35007288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187445731	chr2:35007306-35007307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191169331	chr2:35007321-35007322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564927971	chr2:35007344-35007345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371986834	chr2:35007352-35007353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183334487	chr2:35007353-35007354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187766266	chr2:35007354-35007355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544554686	chr2:35007356-35007357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564366171	chr2:35007368-35007369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192737541	chr2:35007373-35007374	Inactive region	Chromatin interactive region	1 gene(s)	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:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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