Variant report

Variant	esv10373
Chromosome Location	chr2:31270402-31274383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31271828..31272784-chr2:31360611..31361512,2	MCF-7	breast:
2	chr2:31272145..31272819-chr2:31351537..31352165,2	MCF-7	breast:
3	chr2:31272032..31272775-chr2:31392833..31393525,2	MCF-7	breast:
4	chr2:31271664..31274110-chr2:31276191..31278523,2	MCF-7	breast:
5	chr2:31265375..31268101-chr2:31269640..31272936,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158089	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534806552	chr2:31270416-31270417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548351182	chr2:31270418-31270419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6730186	chr2:31270419-31270420	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114967544	chr2:31270424-31270425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557670452	chr2:31270426-31270427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78497297	chr2:31270536-31270537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11694302	chr2:31270617-31270618	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377303496	chr2:31270641-31270642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370535385	chr2:31270682-31270683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11688387	chr2:31270683-31270684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142567716	chr2:31270688-31270689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554363174	chr2:31270709-31270710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377008098	chr2:31270711-31270712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201374864	chr2:31270719-31270720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574411542	chr2:31270721-31270722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543033153	chr2:31270741-31270742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368691936	chr2:31270765-31270766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371657118	chr2:31270775-31270776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191552249	chr2:31270813-31270814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183857693	chr2:31270817-31270818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559131967	chr2:31270818-31270819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11688363	chr2:31270835-31270836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188695697	chr2:31270838-31270839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12712306	chr2:31270849-31270850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72793304	chr2:31270850-31270851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551017434	chr2:31270858-31270859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150971240	chr2:31270895-31270896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540148325	chr2:31270918-31270919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58027920	chr2:31270932-31270933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192630444	chr2:31270936-31270937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76866558	chr2:31270937-31270938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554681489	chr2:31270950-31270951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200182387	chr2:31270992-31270993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11886970	chr2:31270995-31270996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556552773	chr2:31271014-31271015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576388899	chr2:31271061-31271062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554986982	chr2:31271067-31271068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545694815	chr2:31271076-31271077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75992538	chr2:31271086-31271087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76294760	chr2:31271105-31271106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575168575	chr2:31271126-31271127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528322976	chr2:31271166-31271167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182137016	chr2:31271194-31271195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376449256	chr2:31271225-31271226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369996391	chr2:31271247-31271248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116131256	chr2:31271282-31271283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6734015	chr2:31271284-31271285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11898944	chr2:31271289-31271290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533364814	chr2:31271290-31271291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186871483	chr2:31271298-31271299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31262000-31272200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:31267400-31273200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:31270000-31271200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:31271200-31272200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:31271800-31272800	Enhancers	Fetal Kidney	kidney
6	chr2:31272000-31272200	Enhancers	Fetal Intestine Large	intestine
7	chr2:31272200-31274000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:31272200-31275600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:31272400-31272800	Enhancers	Fetal Intestine Small	intestine
10	chr2:31272400-31273600	Weak transcription	Fetal Intestine Large	intestine
11	chr2:31272800-31273200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:31272800-31273200	Weak transcription	Fetal Kidney	kidney
13	chr2:31272800-31274400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:31273000-31274600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:31273000-31275600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:31273000-31275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:31273200-31273400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:31273200-31273400	Enhancers	Lung	lung
19	chr2:31273200-31273400	Enhancers	Pancreas	Pancrea
20	chr2:31273200-31274200	Enhancers	Fetal Kidney	kidney
21	chr2:31273200-31275400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr2:31273200-31275600	Enhancers	Fetal Intestine Small	intestine
23	chr2:31273400-31273600	Enhancers	Primary B cells from cord blood	blood
24	chr2:31273400-31275200	Weak transcription	Lung	lung
25	chr2:31273400-31275600	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:31273400-31276800	Weak transcription	Pancreas	Pancrea
27	chr2:31273600-31274600	Weak transcription	Primary B cells from cord blood	blood
28	chr2:31273600-31275000	Enhancers	Fetal Intestine Large	intestine
29	chr2:31273800-31275200	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:31274000-31274200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:31274000-31275400	Enhancers	Spleen	Spleen
32	chr2:31274200-31274400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr2:31274200-31275600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:31274200-31275600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:31274200-31277000	Weak transcription	Fetal Kidney	kidney

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