Variant report

Variant	esv19007
Chromosome Location	chr2:49653686-49662187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577526583	chr2:49653690-49653691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386645914	chr2:49653700-49653701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569414302	chr2:49653704-49653705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115639765	chr2:49653707-49653708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28391115	chr2:49653709-49653710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17038785	chr2:49653746-49653747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530602291	chr2:49653759-49653760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551871316	chr2:49653776-49653777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67353038	chr2:49653789-49653790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188427197	chr2:49653801-49653802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181189490	chr2:49653819-49653820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146892545	chr2:49653842-49653843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112773722	chr2:49653848-49653849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559750722	chr2:49653901-49653902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530049324	chr2:49653909-49653910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140784234	chr2:49653913-49653914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569633674	chr2:49653925-49653926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144577805	chr2:49653959-49653960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559077262	chr2:49653960-49653961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1527886	chr2:49653980-49653981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541638407	chr2:49654020-49654021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553026248	chr2:49654023-49654024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185888147	chr2:49654072-49654073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566538548	chr2:49654075-49654076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191545228	chr2:49654082-49654083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369554642	chr2:49654091-49654092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181634868	chr2:49654131-49654132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13399722	chr2:49654141-49654142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545424064	chr2:49654150-49654151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55725819	chr2:49654208-49654209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528212782	chr2:49654231-49654232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138537079	chr2:49654240-49654241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370584640	chr2:49654241-49654242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186854270	chr2:49654244-49654245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529156532	chr2:49654250-49654251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140146024	chr2:49654253-49654254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1544914	chr2:49654260-49654261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs62165581	chr2:49654271-49654272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373703498	chr2:49654302-49654303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557587908	chr2:49654319-49654320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112992578	chr2:49654324-49654325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150325644	chr2:49654349-49654350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17038794	chr2:49654362-49654363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540204040	chr2:49654363-49654364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576842742	chr2:49654366-49654367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192145824	chr2:49654381-49654382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553505183	chr2:49654393-49654394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138029173	chr2:49654417-49654418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544118654	chr2:49654424-49654425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10181156	chr2:49654514-49654515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49653600-49654600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49654000-49654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:49654000-49655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:49654000-49655200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:49654200-49655000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links