Variant report

Variant	nsv1007889
Chromosome Location	chr2:57582921-57631325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:57627476..57629537-chr2:57644280..57646195,2	MCF-7	breast:
2	chr2:57602104..57602641-chr2:57724502..57725135,2	MCF-7	breast:
3	chr2:57603852..57604740-chr2:57724321..57725273,3	MCF-7	breast:
4	chr2:57584628..57586577-chr2:57587736..57590174,2	K562	blood:
5	chr2:57603431..57604465-chr2:57724481..57725285,5	MCF-7	breast:
6	chr2:57011309..57011934-chr2:57604188..57604743,2	MCF-7	breast:
7	chr2:57584628..57586577-chr2:57587736..57590174,2	K562	blood:

Extended variants
information (count: 698 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140668813	chr2:57593612-57593613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72935538	chr2:57593623-57593624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180979029	chr2:57593628-57593629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138476340	chr2:57593719-57593720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559737880	chr2:57593742-57593743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143000256	chr2:57593754-57593755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541471062	chr2:57593758-57593759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548032083	chr2:57593792-57593793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561654027	chr2:57593860-57593861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184110323	chr2:57593874-57593875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550773901	chr2:57593894-57593895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113887084	chr2:57593954-57593955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570430803	chr2:57593967-57593968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539552321	chr2:57593995-57593996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188537506	chr2:57594015-57594016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75169641	chr2:57594022-57594023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74934462	chr2:57594035-57594036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555261273	chr2:57594040-57594041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13389238	chr2:57594051-57594052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147468726	chr2:57594130-57594131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74680021	chr2:57594150-57594151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557562243	chr2:57594159-57594160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577253427	chr2:57594220-57594221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546322573	chr2:57594248-57594249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139965010	chr2:57594266-57594267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139941529	chr2:57594296-57594297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79186641	chr2:57594307-57594308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541834560	chr2:57594328-57594329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181349617	chr2:57594329-57594330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530741357	chr2:57594359-57594360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544060898	chr2:57594360-57594361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13398603	chr2:57594369-57594370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186778154	chr2:57594489-57594490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546628872	chr2:57594571-57594572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191606089	chr2:57594654-57594655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376093945	chr2:57594675-57594676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114820769	chr2:57594684-57594685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541849145	chr2:57594689-57594690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549023522	chr2:57594702-57594703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565597400	chr2:57594728-57594729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376242219	chr2:57594735-57594736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77902302	chr2:57594786-57594787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145552136	chr2:57594813-57594814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148459982	chr2:57594845-57594846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13399155	chr2:57594882-57594883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539652557	chr2:57594888-57594889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200902334	chr2:57594889-57594890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79035963	chr2:57594910-57594911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56301460	chr2:57594993-57594994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550921451	chr2:57595007-57595008	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
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	22037309	CNVD

Chromatin state (count:48 , 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	chr2:57595200-57595800	Enhancers	HMEC	breast
3	chr2:57595400-57595800	Enhancers	NHEK	skin
4	chr2:57595800-57599600	Weak transcription	NHEK	skin
5	chr2:57595800-57600000	Weak transcription	HMEC	breast
6	chr2:57596200-57596800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:57598000-57598400	Enhancers	HSMMtube	muscle
8	chr2:57598200-57598400	Enhancers	HSMM	muscle
9	chr2:57598400-57599800	Weak transcription	HSMMtube	muscle
10	chr2:57598400-57602000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:57598600-57599600	Weak transcription	HSMM	muscle
12	chr2:57599000-57601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:57599400-57601400	Enhancers	HUVEC	blood vessel
14	chr2:57599600-57600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:57599600-57601400	Enhancers	NHEK	skin
16	chr2:57599600-57601800	Enhancers	HSMM	muscle
17	chr2:57599600-57601800	Enhancers	NHDF-Ad	bronchial
18	chr2:57599800-57600000	Active TSS	A549	lung
19	chr2:57599800-57601400	Enhancers	HSMMtube	muscle
20	chr2:57600000-57600200	Flanking Active TSS	A549	lung
21	chr2:57600000-57601000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:57600000-57601200	Enhancers	NH-A	brain
23	chr2:57600000-57601400	Enhancers	HMEC	breast
24	chr2:57600200-57601800	Enhancers	A549	lung
25	chr2:57601000-57601200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:57605600-57606400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:57613400-57614000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:57623200-57624000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:57623400-57623800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:57623400-57624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:57623400-57624200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:57623400-57624200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:57623400-57624200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:57623400-57624200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:57623400-57624200	Enhancers	A549	lung
36	chr2:57623400-57624200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:57623400-57624400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:57623600-57624000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:57623800-57624000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:57623800-57625000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:57623800-57625200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:57624000-57624200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr2:57624000-57634800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:57624200-57624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:57624800-57625400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:57625000-57625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:57629000-57629400	Enhancers	Fetal Brain Female	brain
48	chr2:57629000-57630400	Enhancers	Fetal Lung	lung

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