Variant report

Variant	esv3336462
Chromosome Location	chr2:184703495-184730170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537136682	chr2:184714402-184714403	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550644587	chr2:184714404-184714405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139863293	chr2:184714405-184714406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182637208	chr2:184714417-184714418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371619718	chr2:184714418-184714419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555751643	chr2:184714423-184714424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs36159228	chr2:184714434-184714435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs397824471	chr2:184714435-184714436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566285515	chr2:184714501-184714502	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534859140	chr2:184714533-184714534	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187708588	chr2:184714544-184714545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs2368935	chr2:184714555-184714556	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543489133	chr2:184714556-184714557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192710977	chr2:184714569-184714570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111443841	chr2:184714572-184714573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542928207	chr2:184714578-184714579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs80258657	chr2:184714579-184714580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559335744	chr2:184714591-184714592	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186972986	chr2:184714592-184714593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547803473	chr2:184714599-184714600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545267557	chr2:184714603-184714604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs13405184	chr2:184714614-184714615	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4444481	chr2:184714622-184714623	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550682952	chr2:184714628-184714629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77760151	chr2:184714637-184714638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181223942	chr2:184714659-184714660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs79810539	chr2:184714670-184714671	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs75071919	chr2:184714682-184714683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs75466227	chr2:184714688-184714689	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567270362	chr2:184714692-184714693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529630150	chr2:184714697-184714698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368028949	chr2:184714714-184714715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs13391819	chr2:184714733-184714734	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566202584	chr2:184714734-184714735	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534982405	chr2:184714743-184714744	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557956492	chr2:184714758-184714759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571492043	chr2:184714766-184714767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569894221	chr2:184714775-184714776	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200579765	chr2:184714781-184714782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542485129	chr2:184728680-184728681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538525206	chr2:184728735-184728736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555220309	chr2:184728809-184728810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16825144	chr2:184728823-184728824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540726711	chr2:184728860-184728861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554011560	chr2:184728863-184728864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143360803	chr2:184728864-184728865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371437250	chr2:184728894-184728895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116390094	chr2:184728899-184728900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182972393	chr2:184728935-184728936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562525894	chr2:184728938-184728939	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184714400-184714800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:184728600-184730000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links