Variant report

Variant	esv3408988
Chromosome Location	chr2:56746148-56749446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574647524	chr2:56746201-56746202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376628098	chr2:56746203-56746204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552018442	chr2:56746215-56746216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543363552	chr2:56746308-56746309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556696038	chr2:56746323-56746324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576841908	chr2:56746331-56746332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545890999	chr2:56746355-56746356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183630364	chr2:56746364-56746365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2162025	chr2:56746396-56746397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs142103790	chr2:56746404-56746405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76645854	chr2:56746427-56746428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534147783	chr2:56746442-56746443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114376685	chr2:56746459-56746460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145981866	chr2:56746476-56746477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10490407	chr2:56746524-56746525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs569930841	chr2:56746585-56746586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139864466	chr2:56746608-56746609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552243177	chr2:56746626-56746627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9309282	chr2:56746631-56746632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs534463768	chr2:56746632-56746633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144903667	chr2:56746658-56746659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10170067	chr2:56746660-56746661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181159209	chr2:56746679-56746680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199507854	chr2:56746683-56746684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10204808	chr2:56746685-56746686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200057995	chr2:56746708-56746709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200295157	chr2:56746709-56746710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10204816	chr2:56746710-56746711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576889541	chr2:56746713-56746714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201683097	chr2:56746733-56746734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557987204	chr2:56746735-56746736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201038259	chr2:56746758-56746759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79153505	chr2:56746781-56746782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62161638	chr2:56746788-56746789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62161639	chr2:56746792-56746793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201694489	chr2:56746796-56746797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375016729	chr2:56746797-56746798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142712406	chr2:56746798-56746799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572986428	chr2:56746810-56746811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541606385	chr2:56746813-56746814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142105014	chr2:56746821-56746822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561345660	chr2:56746826-56746827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575005324	chr2:56746840-56746841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543744264	chr2:56746853-56746854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540216140	chr2:56746864-56746865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564051100	chr2:56746926-56746927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532367014	chr2:56746936-56746937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150997462	chr2:56746946-56746947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560337293	chr2:56746967-56746968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142176261	chr2:56747000-56747001	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56746000-56746600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:56746600-56749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:56746800-56747800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:56747000-56747400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:56747000-56747400	Enhancers	HSMM	muscle
6	chr2:56747200-56748000	Enhancers	Adipose Nuclei	Adipose
7	chr2:56747400-56749600	Weak transcription	HSMM	muscle
8	chr2:56747400-56749800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56747800-56749800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56748000-56750200	Weak transcription	Adipose Nuclei	Adipose
11	chr2:56748800-56752600	Enhancers	Fetal Heart	heart

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