Variant report

Variant	esv3349298
Chromosome Location	chr2:76358346-76378794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535015680	chr2:76364022-76364023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369467727	chr2:76364025-76364026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71420904	chr2:76364051-76364052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7585603	chr2:76364064-76364065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573552179	chr2:76364069-76364070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535475891	chr2:76364071-76364072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146202140	chr2:76364091-76364092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575703069	chr2:76364095-76364096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539247359	chr2:76364096-76364097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557977453	chr2:76364113-76364114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193283118	chr2:76364127-76364128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540500862	chr2:76364135-76364136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561986351	chr2:76364147-76364148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137946772	chr2:76364158-76364159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544236314	chr2:76364162-76364163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562436796	chr2:76364213-76364214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184293554	chr2:76364300-76364301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540972259	chr2:76364314-76364315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552476125	chr2:76364322-76364323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149451228	chr2:76364333-76364334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7568627	chr2:76364362-76364363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546859765	chr2:76364394-76364395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568415671	chr2:76364404-76364405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368830198	chr2:76364423-76364424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148687415	chr2:76364430-76364431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7582596	chr2:76364444-76364445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569248750	chr2:76364457-76364458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147432635	chr2:76364472-76364473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557988224	chr2:76364483-76364484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566644809	chr2:76364504-76364505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4640412	chr2:76364514-76364515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374237593	chr2:76364536-76364537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138357636	chr2:76366245-76366246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113394496	chr2:76366246-76366247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12993689	chr2:76366272-76366273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs13020068	chr2:76366346-76366347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147422740	chr2:76366368-76366369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578187458	chr2:76366373-76366374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189864676	chr2:76366396-76366397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538803334	chr2:76366397-76366398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376137136	chr2:76366405-76366406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12994329	chr2:76366442-76366443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534482868	chr2:76366457-76366458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12994139	chr2:76366489-76366490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562540478	chr2:76366506-76366507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147201725	chr2:76366541-76366542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1608591	chr2:76366574-76366575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564966405	chr2:76366575-76366576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182530134	chr2:76366593-76366594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148531732	chr2:76366607-76366608	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Glioma	20126413	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76364000-76364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:76366200-76367200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links