Variant report

Variant	nsv520028
Chromosome Location	chr2:51967244-51986339
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	chr2:51969395..51971476-chr2:51980845..51983747,2	K562	blood:
2	2:51681598-51686731..2:51983874-51990011	GM12878	blood:
3	2:51664217-51674289..2:51974300-51979334	H1-hESC	embryonic stem cell:	embryo
4	2:51664217-51674289..2:51983874-51990011	GM12878	blood:
5	chr2:51968237..51969919-chr2:51972902..51975746,2	K562	blood:
6	chr2:51968237..51969919-chr2:51972902..51975746,2	K562	blood:
7	chr2:51969395..51971476-chr2:51980845..51983747,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545768508	chr2:51984404-51984405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535959787	chr2:51984408-51984409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141737116	chr2:51984451-51984452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78102925	chr2:51984458-51984459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17863691	chr2:51984459-51984460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546535638	chr2:51984495-51984496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11563113	chr2:51984518-51984519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192278733	chr2:51984519-51984520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148054710	chr2:51984535-51984536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112562050	chr2:51984571-51984572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568913638	chr2:51984591-51984592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534424218	chr2:51984643-51984644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557779430	chr2:51984659-51984660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566522158	chr2:51984741-51984742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182886674	chr2:51984755-51984756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554206483	chr2:51984785-51984786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17868236	chr2:51984788-51984789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28965172	chr2:51984809-51984810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34287517	chr2:51984834-51984835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548533916	chr2:51984845-51984846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73930761	chr2:51984873-51984874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372260423	chr2:51984884-51984885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76592305	chr2:51984889-51984890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567261938	chr2:51984975-51984976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193116928	chr2:51985022-51985023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537495787	chr2:51985179-51985180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564135399	chr2:51985182-51985183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371481932	chr2:51985199-51985200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557850120	chr2:51985212-51985213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11418028	chr2:51985213-51985214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528422394	chr2:51985218-51985219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150619089	chr2:51985230-51985231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367546093	chr2:51985237-51985238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76082681	chr2:51985241-51985242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371860228	chr2:51985258-51985259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563275550	chr2:51985263-51985264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568999382	chr2:51985269-51985270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576715906	chr2:51985275-51985276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11563265	chr2:51985286-51985287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551451352	chr2:51985306-51985307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139676629	chr2:51985316-51985317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533732309	chr2:51985344-51985345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369143465	chr2:51985378-51985379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187699129	chr2:51985392-51985393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116770505	chr2:51985422-51985423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535805741	chr2:51985423-51985424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144723401	chr2:51985446-51985447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575478552	chr2:51985448-51985449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559490617	chr2:51985454-51985455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11563085	chr2:51985455-51985456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
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
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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51984400-51985800	Enhancers	Hela-S3	cervix

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