Variant report

Variant	esv3324872
Chromosome Location	chr2:36954923-36956971
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	chr2:36956863..36959854-chr2:36963372..36965753,3	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533270456	chr2:36954972-36954973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4670166	chr2:36955005-36955006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs367971257	chr2:36955031-36955032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569959487	chr2:36955045-36955046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372130963	chr2:36955052-36955053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551746180	chr2:36955060-36955061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566912153	chr2:36955070-36955071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114240168	chr2:36955071-36955072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78597396	chr2:36955090-36955091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567944746	chr2:36955106-36955107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546868584	chr2:36955121-36955122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187375240	chr2:36955139-36955140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553627334	chr2:36955140-36955141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4670167	chr2:36955175-36955176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573979417	chr2:36955215-36955216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557790459	chr2:36955217-36955218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192099903	chr2:36955289-36955290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535606025	chr2:36955304-36955305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114885757	chr2:36955311-36955312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372889622	chr2:36955312-36955313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376079285	chr2:36955378-36955379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114373579	chr2:36955414-36955415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575276847	chr2:36955447-36955448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148280654	chr2:36955474-36955475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370434748	chr2:36955575-36955576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559136272	chr2:36955576-36955577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550673345	chr2:36955601-36955602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116572185	chr2:36955614-36955615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551587409	chr2:36955685-36955686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563800073	chr2:36955687-36955688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530844191	chr2:36955727-36955728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557729190	chr2:36955865-36955866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11896498	chr2:36955943-36955944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201033795	chr2:36955965-36955966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201789401	chr2:36955973-36955974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11885812	chr2:36955980-36955981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115132039	chr2:36956014-36956015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567637234	chr2:36956058-36956059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184093360	chr2:36956061-36956062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538041100	chr2:36956082-36956083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562018653	chr2:36956103-36956104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374085616	chr2:36956118-36956119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369954346	chr2:36956135-36956136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78157991	chr2:36956144-36956145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574026433	chr2:36956172-36956173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547275533	chr2:36956174-36956175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571875803	chr2:36956292-36956293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539222857	chr2:36956328-36956329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557611029	chr2:36956359-36956360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11124535	chr2:36956372-36956373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36941000-36960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:36942600-36968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:36948400-36958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:36951600-36957200	Weak transcription	Ovary	ovary
5	chr2:36951800-36958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:36952000-36956800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:36956200-36957000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:36956200-36957000	Enhancers	NHDF-Ad	bronchial
9	chr2:36956800-36958000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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