Variant report

Variant	esv3527832
Chromosome Location	chr2:30606448-30609846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30608816..30611428-chr2:30612958..30614942,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35274131	chr2:30606471-30606472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572692649	chr2:30606486-30606487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34235211	chr2:30606499-30606500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182067429	chr2:30606512-30606513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35211324	chr2:30606516-30606517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559774437	chr2:30606573-30606574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561773230	chr2:30606574-30606575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76273187	chr2:30606578-30606579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550554149	chr2:30606655-30606656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13033921	chr2:30606663-30606664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs533031957	chr2:30606666-30606667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546831581	chr2:30606693-30606694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566532105	chr2:30606712-30606713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527399531	chr2:30606792-30606793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12471481	chr2:30608003-30608004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544731575	chr2:30608022-30608023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7580471	chr2:30608028-30608029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572734335	chr2:30608054-30608055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147810293	chr2:30608060-30608061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72865618	chr2:30608099-30608100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7583194	chr2:30608160-30608161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs542687131	chr2:30608178-30608179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75478514	chr2:30608295-30608296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114114642	chr2:30608296-30608297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544764747	chr2:30608319-30608320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564841530	chr2:30608325-30608326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7557742	chr2:30608333-30608334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547492389	chr2:30608335-30608336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7557751	chr2:30608352-30608353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189720741	chr2:30608353-30608354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182064868	chr2:30608355-30608356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531632928	chr2:30608437-30608438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371004905	chr2:30608469-30608470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199961171	chr2:30608486-30608487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148874402	chr2:30608534-30608535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539241829	chr2:30608607-30608608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564713293	chr2:30608618-30608619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559148306	chr2:30608648-30608649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566397483	chr2:30608671-30608672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551361719	chr2:30608690-30608691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189110332	chr2:30608697-30608698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7583844	chr2:30608719-30608720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573580426	chr2:30608731-30608732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542398982	chr2:30608776-30608777	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30606200-30606800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:30608000-30608800	Enhancers	Fetal Intestine Large	intestine
3	chr2:30608400-30608600	Enhancers	Fetal Intestine Small	intestine

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