Variant report

Variant	nsv518692
Chromosome Location	chr2:53651911-53656868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2131786	chr2:53651911-53651912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549432602	chr2:53651935-53651936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116088053	chr2:53651949-53651950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554765319	chr2:53652018-53652019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574920019	chr2:53652030-53652031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542444042	chr2:53652061-53652062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370131702	chr2:53652064-53652065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78151337	chr2:53652091-53652092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115661235	chr2:53652132-53652133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10189167	chr2:53652133-53652134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114715317	chr2:53652174-53652175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62139950	chr2:53652221-53652222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77037271	chr2:53652231-53652232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542103610	chr2:53652298-53652299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80321439	chr2:53652352-53652353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149630374	chr2:53652356-53652357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144400317	chr2:53652358-53652359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550373061	chr2:53652376-53652377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1565797	chr2:53652383-53652384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181796734	chr2:53652398-53652399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552911691	chr2:53652412-53652413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78453101	chr2:53652449-53652450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1565798	chr2:53652475-53652476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373373453	chr2:53652594-53652595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189496381	chr2:53656213-53656214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78269660	chr2:53656222-53656223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6732693	chr2:53656304-53656305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192049081	chr2:53656387-53656388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17044657	chr2:53656420-53656421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17044658	chr2:53656450-53656451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185002118	chr2:53656501-53656502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545531874	chr2:53656502-53656503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72806783	chr2:53656508-53656509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577762488	chr2:53656544-53656545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556521372	chr2:53656557-53656558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1521943	chr2:53656604-53656605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560177652	chr2:53656607-53656608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529183497	chr2:53656615-53656616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548546376	chr2:53656622-53656623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369832811	chr2:53656645-53656646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112940896	chr2:53656671-53656672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576659292	chr2:53656672-53656673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10496023	chr2:53656677-53656678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs377508617	chr2:53656682-53656683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565290218	chr2:53656711-53656712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571370542	chr2:53656733-53656734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534123884	chr2:53656754-53656755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548006871	chr2:53656792-53656793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567940502	chr2:53656793-53656794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115063692	chr2:53656803-53656804	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53651400-53652400	Enhancers	GM12878-XiMat	blood
2	chr2:53651800-53652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:53652000-53652200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:53652000-53652200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:53656200-53657400	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links