Variant report

Variant	esv9913
Chromosome Location	chr2:36008935-36009641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563344129	chr2:36008960-36008961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141781282	chr2:36008978-36008979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530883556	chr2:36008990-36008991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7591804	chr2:36009012-36009013	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376501125	chr2:36009019-36009020	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561307877	chr2:36009051-36009052	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs70943139	chr2:36009053-36009054	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375263781	chr2:36009054-36009055	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149850332	chr2:36009059-36009060	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546969586	chr2:36009060-36009061	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571870267	chr2:36009067-36009068	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9308982	chr2:36009121-36009122	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9308983	chr2:36009125-36009126	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145878975	chr2:36009129-36009130	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9308984	chr2:36009139-36009140	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555532437	chr2:36009172-36009173	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573754840	chr2:36009178-36009179	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72873316	chr2:36009180-36009181	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140654099	chr2:36009200-36009201	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145770398	chr2:36009242-36009243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115861176	chr2:36009265-36009266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556901128	chr2:36009277-36009278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7568352	chr2:36009285-36009286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7568625	chr2:36009371-36009372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572684319	chr2:36009378-36009379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7568472	chr2:36009451-36009452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540775761	chr2:36009452-36009453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7568654	chr2:36009456-36009457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532821415	chr2:36009462-36009463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146608618	chr2:36009485-36009486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188712568	chr2:36009513-36009514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530570746	chr2:36009537-36009538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201486401	chr2:36009607-36009608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7568855	chr2:36009614-36009615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs13429777	chr2:36009625-36009626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534420155	chr2:36009626-36009627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36008600-36009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:36008600-36009400	Enhancers	A549	lung
3	chr2:36009000-36009200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:36009200-36011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links