Variant report

Variant	nsv829434
Chromosome Location	chr2:56812143-56815000
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	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72805178	chr2:56812145-56812146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs66555858	chr2:56812161-56812162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6745039	chr2:56812187-56812188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571511584	chr2:56812292-56812293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371660253	chr2:56812325-56812326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139449583	chr2:56812329-56812330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554305877	chr2:56812418-56812419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569709378	chr2:56812481-56812482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190726743	chr2:56812510-56812511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538963047	chr2:56812537-56812538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556363536	chr2:56812541-56812542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116512323	chr2:56812552-56812553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544932014	chr2:56812580-56812581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114213385	chr2:56812599-56812600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372715926	chr2:56812603-56812604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149325576	chr2:56812639-56812640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373345188	chr2:56812687-56812688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147421098	chr2:56812696-56812697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560634333	chr2:56812697-56812698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529767211	chr2:56812719-56812720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192157963	chr2:56812735-56812736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184524407	chr2:56812746-56812747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188320397	chr2:56812771-56812772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551742649	chr2:56812790-56812791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75700843	chr2:56812798-56812799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181196703	chr2:56812799-56812800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367558973	chr2:56812802-56812803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543907330	chr2:56812818-56812819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547848298	chr2:56812823-56812824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115966287	chr2:56812829-56812830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202131451	chr2:56812900-56812901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536706989	chr2:56812909-56812910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556625832	chr2:56812918-56812919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534303583	chr2:56812923-56812924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576107888	chr2:56812932-56812933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554110486	chr2:56812933-56812934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139707675	chr2:56812941-56812942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56191705	chr2:56813027-56813028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs55889936	chr2:56813037-56813038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116813499	chr2:56813064-56813065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563918493	chr2:56813087-56813088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72805180	chr2:56813097-56813098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546502258	chr2:56813160-56813161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574110603	chr2:56813164-56813165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543074805	chr2:56813197-56813198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560072060	chr2:56813218-56813219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34664935	chr2:56813263-56813264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563400576	chr2:56813272-56813273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531811033	chr2:56813310-56813311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188798052	chr2:56813324-56813325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56810600-56816000	Weak transcription	NHEK	skin
2	chr2:56810800-56815800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:56811400-56814400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:56811600-56814200	Weak transcription	HSMM	muscle
5	chr2:56811800-56814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:56814200-56814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:56814200-56814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:56814200-56815200	Enhancers	HSMM	muscle
9	chr2:56814400-56814800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:56814400-56815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:56814800-56816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:56814800-56818000	Weak transcription	Muscle Satellite Cultured Cells	--

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