Variant report

Variant	esv3329463
Chromosome Location	chr2:56823350-56853252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 385 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543571701	chr2:56833418-56833419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556902459	chr2:56833426-56833427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145277320	chr2:56833447-56833448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114454542	chr2:56833452-56833453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149168850	chr2:56833456-56833457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146467750	chr2:56833459-56833460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541923624	chr2:56833531-56833532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561855511	chr2:56833544-56833545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530535050	chr2:56833545-56833546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550320957	chr2:56833547-56833548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570164869	chr2:56833578-56833579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11688435	chr2:56833580-56833581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183690404	chr2:56833581-56833582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370584731	chr2:56833583-56833584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555948033	chr2:56835604-56835605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556021606	chr2:56835605-56835606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575588458	chr2:56835627-56835628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148161563	chr2:56835630-56835631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544899684	chr2:56835636-56835637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75066467	chr2:56835646-56835647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533391698	chr2:56835743-56835744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540714685	chr2:56835749-56835750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540293830	chr2:56836213-56836214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10200031	chr2:56836222-56836223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs57457595	chr2:56836237-56836238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551248486	chr2:56836238-56836239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564804886	chr2:56836298-56836299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527604780	chr2:56836316-56836317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546943639	chr2:56836332-56836333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115899113	chr2:56836337-56836338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535957465	chr2:56836357-56836358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549895586	chr2:56836406-56836407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569336665	chr2:56836412-56836413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181435414	chr2:56836415-56836416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185859560	chr2:56836422-56836423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538075948	chr2:56836430-56836431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578237854	chr2:56836442-56836443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534503100	chr2:56836447-56836448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3948576	chr2:56836468-56836469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562027821	chr2:56836483-56836484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567806813	chr2:56836485-56836486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36006605	chr2:56836492-56836493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10187925	chr2:56836494-56836495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542736541	chr2:56836495-56836496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190614092	chr2:56836518-56836519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576478301	chr2:56836532-56836533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2112027	chr2:56836621-56836622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs564741550	chr2:56836623-56836624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113851729	chr2:56836624-56836625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183188505	chr2:56836635-56836636	Weak transcription	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
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56833400-56833600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:56835600-56835800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:56836200-56837400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:56837200-56837600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:56837400-56838200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:56837600-56838000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:56837600-56838400	Enhancers	HSMM	muscle
8	chr2:56838200-56840800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:56838400-56840600	Weak transcription	HSMM	muscle
10	chr2:56840600-56841600	Enhancers	HSMM	muscle
11	chr2:56840800-56841600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:56841400-56841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:56841600-56842600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:56842600-56843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:56842800-56843600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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