Variant report

Variant	esv3371436
Chromosome Location	chr2:31724848-31728196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139262429	chr2:31727601-31727602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576247495	chr2:31727624-31727625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532303613	chr2:31727626-31727627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534982364	chr2:31727628-31727629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs472445	chr2:31727639-31727640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs394425	chr2:31727675-31727676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs394434	chr2:31727683-31727684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541325766	chr2:31727712-31727713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369978969	chr2:31727747-31727748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536065360	chr2:31727771-31727772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563651037	chr2:31727776-31727777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373440123	chr2:31727797-31727798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554999155	chr2:31727809-31727810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191190275	chr2:31727810-31727811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182119022	chr2:31727827-31727828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570071002	chr2:31727828-31727829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537404979	chr2:31727870-31727871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569725934	chr2:31727901-31727902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7572232	chr2:31727938-31727939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78790869	chr2:31728000-31728001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374878577	chr2:31728052-31728053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55732422	chr2:31728139-31728140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148770335	chr2:31728179-31728180	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31727600-31730800	Enhancers	Fetal Intestine Large	intestine
2	chr2:31727600-31731600	Enhancers	Fetal Intestine Small	intestine

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