Variant report

Variant	esv2520194
Chromosome Location	chr2:213529709-213531182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144544535	chr2:213529716-213529717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148337950	chr2:213529720-213529721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142020713	chr2:213529760-213529761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551033990	chr2:213529795-213529796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569352623	chr2:213529800-213529801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185909252	chr2:213529895-213529896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11896992	chr2:213529898-213529899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146313728	chr2:213530015-213530016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555823832	chr2:213530051-213530052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2371710	chr2:213530069-213530070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs201437000	chr2:213530145-213530146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555602697	chr2:213530146-213530147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567661747	chr2:213530172-213530173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188156123	chr2:213530178-213530179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556564610	chr2:213530183-213530184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575232111	chr2:213530224-213530225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545847081	chr2:213530284-213530285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367656567	chr2:213530333-213530334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200084579	chr2:213530400-213530401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557588507	chr2:213530476-213530477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572945386	chr2:213530498-213530499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540436700	chr2:213530540-213530541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376630232	chr2:213530554-213530555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529233347	chr2:213530614-213530615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541621160	chr2:213530647-213530648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139478860	chr2:213530651-213530652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181092242	chr2:213530655-213530656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185532188	chr2:213530692-213530693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13423818	chr2:213530778-213530779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566863283	chr2:213530787-213530788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527879532	chr2:213530866-213530867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549214313	chr2:213530928-213530929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112097684	chr2:213530929-213530930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs66813265	chr2:213530930-213530931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386392509	chr2:213530932-213530933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10644779	chr2:213530934-213530935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572261284	chr2:213530944-213530945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190235644	chr2:213530978-213530979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530727722	chr2:213530998-213530999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540968601	chr2:213531004-213531005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10168708	chr2:213531019-213531020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568805706	chr2:213531060-213531061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539065391	chr2:213531087-213531088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13424220	chr2:213531099-213531100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572892740	chr2:213531101-213531102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13424239	chr2:213531142-213531143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559260247	chr2:213531144-213531145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144532859	chr2:213531177-213531178	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213529600-213532800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:213530000-213531400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:213531000-213531200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:213531000-213532600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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