Variant report

Variant	esv3457514
Chromosome Location	chr2:35007246-35007827
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: 34 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550839190	chr2:35007248-35007249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140600090	chr2:35007254-35007255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543552413	chr2:35007266-35007267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539811122	chr2:35007272-35007273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572215782	chr2:35007287-35007288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187445731	chr2:35007306-35007307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191169331	chr2:35007321-35007322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564927971	chr2:35007344-35007345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371986834	chr2:35007352-35007353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183334487	chr2:35007353-35007354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187766266	chr2:35007354-35007355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544554686	chr2:35007356-35007357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564366171	chr2:35007368-35007369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192737541	chr2:35007373-35007374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75849065	chr2:35007403-35007404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184171261	chr2:35007409-35007410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188351313	chr2:35007417-35007418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548640913	chr2:35007418-35007419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7600503	chr2:35007462-35007463	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530992303	chr2:35007468-35007469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550902429	chr2:35007481-35007482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571121519	chr2:35007495-35007496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539694828	chr2:35007543-35007544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546979610	chr2:35007581-35007582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566716396	chr2:35007585-35007586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535974388	chr2:35007593-35007594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144564464	chr2:35007601-35007602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191590974	chr2:35007615-35007616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530455741	chr2:35007623-35007624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575552995	chr2:35007731-35007732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7600651	chr2:35007765-35007766	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111668230	chr2:35007791-35007792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548471984	chr2:35007796-35007797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79928777	chr2:35007825-35007826	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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