Variant report

Variant	esv3431164
Chromosome Location	chr2:51935120-51935630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374028966	chr2:51935123-51935124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78286894	chr2:51935143-51935144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534658761	chr2:51935150-51935151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554446683	chr2:51935160-51935161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542610749	chr2:51935194-51935195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35746341	chr2:51935209-51935210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560986869	chr2:51935215-51935216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531605907	chr2:51935216-51935217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28967869	chr2:51935224-51935225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17874927	chr2:51935272-51935273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367796649	chr2:51935273-51935274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76838251	chr2:51935288-51935289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180837686	chr2:51935293-51935294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72880329	chr2:51935303-51935304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4353689	chr2:51935326-51935327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs568376965	chr2:51935357-51935358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144323889	chr2:51935371-51935372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569626369	chr2:51935414-51935415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537067833	chr2:51935448-51935449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556861333	chr2:51935450-51935451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571881204	chr2:51935473-51935474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539202444	chr2:51935487-51935488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4316974	chr2:51935500-51935501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147787347	chr2:51935528-51935529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34110884	chr2:51935583-51935584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368222892	chr2:51935588-51935589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72880333	chr2:51935615-51935616	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
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51934600-51936000	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links