Variant report

Variant	nsv963976
Chromosome Location	chr2:57596217-57602238
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	chr2:57602104..57602641-chr2:57724502..57725135,2	MCF-7	breast:

Extended variants
information (count: 227 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138252355	chr2:57596226-57596227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149616543	chr2:57596324-57596325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553015869	chr2:57596338-57596339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188623108	chr2:57596359-57596360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72935541	chr2:57596367-57596368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143368669	chr2:57596375-57596376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139343174	chr2:57596376-57596377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192997125	chr2:57596405-57596406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534124139	chr2:57596432-57596433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185603096	chr2:57596441-57596442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374948569	chr2:57596454-57596455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188035693	chr2:57596474-57596475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55658488	chr2:57596585-57596586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10199165	chr2:57596612-57596613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562572223	chr2:57596650-57596651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540429261	chr2:57596670-57596671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576082037	chr2:57596689-57596690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7570448	chr2:57596690-57596691	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369531459	chr2:57596727-57596728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192562933	chr2:57596736-57596737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533441112	chr2:57596790-57596791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546841688	chr2:57596794-57596795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143354039	chr2:57596814-57596815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13406256	chr2:57596841-57596842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12478981	chr2:57596861-57596862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569312883	chr2:57596904-57596905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531750533	chr2:57596924-57596925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531785059	chr2:57596936-57596937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78209183	chr2:57596951-57596952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17048787	chr2:57596962-57596963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534192492	chr2:57597034-57597035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554072665	chr2:57597056-57597057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567585483	chr2:57597069-57597070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568757022	chr2:57597091-57597092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536426962	chr2:57597092-57597093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556119094	chr2:57597116-57597117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537886664	chr2:57597155-57597156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576078348	chr2:57597167-57597168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139897164	chr2:57597173-57597174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61321208	chr2:57597221-57597222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571667559	chr2:57597277-57597278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540643367	chr2:57597359-57597360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560386103	chr2:57597365-57597366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72935546	chr2:57597382-57597383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546499807	chr2:57597430-57597431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543193072	chr2:57597461-57597462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562983139	chr2:57597463-57597464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531831405	chr2:57597468-57597469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202099685	chr2:57597493-57597494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57228556	chr2:57597494-57597495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57593600-57601000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:57595800-57599600	Weak transcription	NHEK	skin
3	chr2:57595800-57600000	Weak transcription	HMEC	breast
4	chr2:57596200-57596800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:57598000-57598400	Enhancers	HSMMtube	muscle
6	chr2:57598200-57598400	Enhancers	HSMM	muscle
7	chr2:57598400-57599800	Weak transcription	HSMMtube	muscle
8	chr2:57598400-57602000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:57598600-57599600	Weak transcription	HSMM	muscle
10	chr2:57599000-57601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:57599400-57601400	Enhancers	HUVEC	blood vessel
12	chr2:57599600-57600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:57599600-57601400	Enhancers	NHEK	skin
14	chr2:57599600-57601800	Enhancers	HSMM	muscle
15	chr2:57599600-57601800	Enhancers	NHDF-Ad	bronchial
16	chr2:57599800-57600000	Active TSS	A549	lung
17	chr2:57599800-57601400	Enhancers	HSMMtube	muscle
18	chr2:57600000-57600200	Flanking Active TSS	A549	lung
19	chr2:57600000-57601000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:57600000-57601200	Enhancers	NH-A	brain
21	chr2:57600000-57601400	Enhancers	HMEC	breast
22	chr2:57600200-57601800	Enhancers	A549	lung
23	chr2:57601000-57601200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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