Variant report

Variant	nsv961720
Chromosome Location	chr2:56937541-56942228
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	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:

Extended variants
information (count: 191 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs578164640	chr2:56937543-56937544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183266593	chr2:56937622-56937623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554182495	chr2:56937719-56937720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575572661	chr2:56937832-56937833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111868277	chr2:56937872-56937873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72237043	chr2:56937915-56937916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542743737	chr2:56937927-56937928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569092514	chr2:56937931-56937932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200944736	chr2:56937932-56937933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562617196	chr2:56937934-56937935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187836015	chr2:56937935-56937936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545150151	chr2:56937937-56937938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565037745	chr2:56937957-56937958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193131132	chr2:56938098-56938099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149576910	chr2:56938134-56938135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7577678	chr2:56938135-56938136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182852777	chr2:56938145-56938146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549924707	chr2:56938189-56938190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555991440	chr2:56938229-56938230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144239935	chr2:56938340-56938341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148715934	chr2:56938370-56938371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551901943	chr2:56938400-56938401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575939197	chr2:56938410-56938411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577985018	chr2:56938421-56938422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376341817	chr2:56938468-56938469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142471146	chr2:56938513-56938514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187752591	chr2:56938520-56938521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534547319	chr2:56938549-56938550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554152638	chr2:56938554-56938555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573722471	chr2:56938585-56938586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192828696	chr2:56938589-56938590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183988060	chr2:56938647-56938648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576083502	chr2:56938747-56938748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545169924	chr2:56938751-56938752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565129638	chr2:56938854-56938855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74422805	chr2:56938875-56938876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146872858	chr2:56938905-56938906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139738812	chr2:56938914-56938915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188822740	chr2:56938950-56938951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542095131	chr2:56938972-56938973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572044124	chr2:56939004-56939005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192149654	chr2:56939023-56939024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540737581	chr2:56939044-56939045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374667963	chr2:56939070-56939071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184455260	chr2:56939139-56939140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13416797	chr2:56939144-56939145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571841819	chr2:56939155-56939156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534106454	chr2:56939197-56939198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146592880	chr2:56939280-56939281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140293506	chr2:56939312-56939313	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56932200-56943000	Weak transcription	Psoas Muscle	Psoas
2	chr2:56933800-56940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:56940200-56940400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56940200-56940400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:56940200-56941400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:56940200-56942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:56940200-56942000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:56940200-56943200	Enhancers	Fetal Heart	heart
9	chr2:56940400-56940800	Enhancers	HSMMtube	muscle
10	chr2:56940400-56941000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:56940400-56941000	Enhancers	Osteobl	bone
12	chr2:56940400-56941800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:56940400-56942000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:56940600-56941800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:56941000-56942000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56941200-56941400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:56941200-56941800	Enhancers	NH-A	brain
18	chr2:56941400-56942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:56941400-56945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:56942000-56942400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:56942000-56942600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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