Variant report

Variant	nsv519859
Chromosome Location	chr2:49045984-49052293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11690419	chr2:49045984-49045985	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189890116	chr2:49046004-49046005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181597567	chr2:49046007-49046008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567744630	chr2:49046012-49046013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142640565	chr2:49046018-49046019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556591813	chr2:49046047-49046048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578078779	chr2:49046049-49046050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72811863	chr2:49046065-49046066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558055603	chr2:49046082-49046083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373184134	chr2:49046087-49046088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62137386	chr2:49046100-49046101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554394662	chr2:49046104-49046105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113264974	chr2:49046118-49046119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543907275	chr2:49046212-49046213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143423391	chr2:49046225-49046226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532957508	chr2:49046240-49046241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150934673	chr2:49046254-49046255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560816397	chr2:49046273-49046274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140762343	chr2:49046310-49046311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67138907	chr2:49046321-49046322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531790834	chr2:49046328-49046329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550315780	chr2:49046377-49046378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571641590	chr2:49046385-49046386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539003970	chr2:49046394-49046395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs207461712	chr2:49046416-49046417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553915237	chr2:49046473-49046474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34375934	chr2:49046476-49046477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533889196	chr2:49046503-49046504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555098003	chr2:49046504-49046505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373085102	chr2:49046527-49046528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34737830	chr2:49046554-49046555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573511133	chr2:49046563-49046564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138615713	chr2:49046571-49046572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531231918	chr2:49046588-49046589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565021816	chr2:49046612-49046613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141735046	chr2:49046627-49046628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189343830	chr2:49046655-49046656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571039048	chr2:49046672-49046673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535147839	chr2:49046675-49046676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554211261	chr2:49046710-49046711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72886204	chr2:49046744-49046745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs527982850	chr2:49046768-49046769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145456863	chr2:49046769-49046770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561435101	chr2:49046787-49046788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531966586	chr2:49046798-49046799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138089349	chr2:49046819-49046820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550428213	chr2:49046826-49046827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180829980	chr2:49046868-49046869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532538763	chr2:49046879-49046880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547767401	chr2:49046889-49046890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49043600-49047000	Enhancers	Fetal Intestine Large	intestine
3	chr2:49045800-49046000	Weak transcription	Ovary	ovary
4	chr2:49046000-49046600	Enhancers	Ovary	ovary
5	chr2:49046200-49047000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:49046200-49047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:49046600-49053200	Weak transcription	Ovary	ovary

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