Variant report

Variant	esv3403296
Chromosome Location	chr2:40479648-40480896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557371426	chr2:40479651-40479652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148683726	chr2:40479658-40479659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564684136	chr2:40479670-40479671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536766918	chr2:40479681-40479682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144523219	chr2:40479689-40479690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572964611	chr2:40479700-40479701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540414142	chr2:40479721-40479722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180978661	chr2:40479737-40479738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577047267	chr2:40479764-40479765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368479136	chr2:40479773-40479774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562162476	chr2:40479777-40479778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72794786	chr2:40479778-40479779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541524961	chr2:40479791-40479792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186277364	chr2:40479816-40479817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139338100	chr2:40479817-40479818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191527562	chr2:40479825-40479826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542291559	chr2:40479831-40479832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540324365	chr2:40479845-40479846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529178537	chr2:40479885-40479886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs673689	chr2:40479908-40479909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571874816	chr2:40479920-40479921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559950276	chr2:40479921-40479922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372038439	chr2:40479922-40479923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137878728	chr2:40479928-40479929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10197174	chr2:40479930-40479931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111648054	chr2:40479939-40479940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551267488	chr2:40479940-40479941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202041270	chr2:40479947-40479948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569278254	chr2:40479957-40479958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200401309	chr2:40479959-40479960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186820369	chr2:40479995-40479996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201117449	chr2:40480010-40480011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566955063	chr2:40480016-40480017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114450196	chr2:40480021-40480022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144124591	chr2:40480038-40480039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199640767	chr2:40480039-40480040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200703212	chr2:40480041-40480042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375051729	chr2:40480045-40480046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368340559	chr2:40480047-40480048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372323113	chr2:40480049-40480050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191598504	chr2:40480059-40480060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558704453	chr2:40480065-40480066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576930246	chr2:40480066-40480067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544119322	chr2:40480067-40480068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148247998	chr2:40480068-40480069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555989656	chr2:40480073-40480074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201602514	chr2:40480079-40480080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574102364	chr2:40480083-40480084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111259683	chr2:40480087-40480088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145630524	chr2:40480091-40480092	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
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
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	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40470400-40481200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:40472600-40487200	Weak transcription	HSMM	muscle
6	chr2:40475800-40480000	Enhancers	Fetal Heart	heart
7	chr2:40475800-40485400	Weak transcription	Right Atrium	heart
8	chr2:40477800-40479800	Enhancers	Fetal Intestine Small	intestine
9	chr2:40477800-40479800	Enhancers	Stomach Mucosa	stomach
10	chr2:40478000-40479800	Enhancers	Fetal Intestine Large	intestine
11	chr2:40478400-40479800	Enhancers	Left Ventricle	heart
12	chr2:40478600-40481800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:40478600-40487000	Weak transcription	Hela-S3	cervix
14	chr2:40478800-40481400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:40478800-40482000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:40478800-40482200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:40478800-40496600	Weak transcription	Right Ventricle	heart
18	chr2:40478800-40499600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:40479000-40487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:40479400-40488000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:40479800-40485000	Weak transcription	Left Ventricle	heart
22	chr2:40480000-40480400	Weak transcription	Fetal Heart	heart
23	chr2:40480400-40480600	Enhancers	Fetal Heart	heart
24	chr2:40480600-40483200	Weak transcription	Fetal Heart	heart

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