Variant report

Variant	nsv582088
Chromosome Location	chr2:57547114-57626992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:57603852..57604740-chr2:57724321..57725273,3	MCF-7	breast:
2	chr2:56412160..56413674-chr2:57559267..57562168,2	MCF-7	breast:
3	chr2:57603431..57604465-chr2:57724481..57725285,5	MCF-7	breast:
4	chr2:57011309..57011934-chr2:57604188..57604743,2	MCF-7	breast:
5	chr2:57584628..57586577-chr2:57587736..57590174,2	K562	blood:
6	chr2:57602104..57602641-chr2:57724502..57725135,2	MCF-7	breast:
7	chr2:57584628..57586577-chr2:57587736..57590174,2	K562	blood:

Variant related genes	Relation type
ENSG00000233251	chromatin interactions

Extended variants
information (count: 722 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35302538	chr2:57557213-57557214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75442462	chr2:57557216-57557217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141275356	chr2:57557219-57557220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527734641	chr2:57557230-57557231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72933510	chr2:57557233-57557234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs72933512	chr2:57557258-57557259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190614426	chr2:57557271-57557272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549788846	chr2:57557281-57557282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142564350	chr2:57557284-57557285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538563002	chr2:57557295-57557296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552352125	chr2:57557318-57557319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183774607	chr2:57557350-57557351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187121863	chr2:57557368-57557369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192137803	chr2:57557386-57557387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534872958	chr2:57557453-57557454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574328805	chr2:57557463-57557464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537096654	chr2:57557485-57557486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535606476	chr2:57557489-57557490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556569961	chr2:57557505-57557506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576636688	chr2:57557524-57557525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150946499	chr2:57557535-57557536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370362242	chr2:57557589-57557590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565109365	chr2:57557642-57557643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13410874	chr2:57557681-57557682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72933515	chr2:57557699-57557700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13410706	chr2:57557735-57557736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550105292	chr2:57557763-57557764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150080628	chr2:57557801-57557802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532417987	chr2:57557828-57557829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13424344	chr2:57557903-57557904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552514412	chr2:57557953-57557954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183908489	chr2:57558007-57558008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370887361	chr2:57558026-57558027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548302165	chr2:57558028-57558029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577114373	chr2:57558126-57558127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536756617	chr2:57558168-57558169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75762248	chr2:57558180-57558181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576786168	chr2:57558238-57558239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138774135	chr2:57558265-57558266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558860000	chr2:57558280-57558281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78585547	chr2:57558312-57558313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541277557	chr2:57558461-57558462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561329896	chr2:57558483-57558484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565972771	chr2:57558530-57558531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543572091	chr2:57558576-57558577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563663256	chr2:57558590-57558591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532584405	chr2:57558607-57558608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546096947	chr2:57558666-57558667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368809252	chr2:57558674-57558675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544310725	chr2:57558681-57558682	Enhancers 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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57557200-57557400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:57557200-57558200	Enhancers	Fetal Heart	heart
3	chr2:57557400-57558400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:57557600-57558200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:57557600-57558200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:57557600-57558200	Enhancers	NHEK	skin
7	chr2:57557600-57558400	Enhancers	HSMM	muscle
8	chr2:57558200-57559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:57558400-57558800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:57559600-57560200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:57559800-57560000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:57593600-57601000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:57595200-57595800	Enhancers	HMEC	breast
14	chr2:57595400-57595800	Enhancers	NHEK	skin
15	chr2:57595800-57599600	Weak transcription	NHEK	skin
16	chr2:57595800-57600000	Weak transcription	HMEC	breast
17	chr2:57596200-57596800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:57598000-57598400	Enhancers	HSMMtube	muscle
19	chr2:57598200-57598400	Enhancers	HSMM	muscle
20	chr2:57598400-57599800	Weak transcription	HSMMtube	muscle
21	chr2:57598400-57602000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:57598600-57599600	Weak transcription	HSMM	muscle
23	chr2:57599000-57601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:57599400-57601400	Enhancers	HUVEC	blood vessel
25	chr2:57599600-57600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:57599600-57601400	Enhancers	NHEK	skin
27	chr2:57599600-57601800	Enhancers	HSMM	muscle
28	chr2:57599600-57601800	Enhancers	NHDF-Ad	bronchial
29	chr2:57599800-57600000	Active TSS	A549	lung
30	chr2:57599800-57601400	Enhancers	HSMMtube	muscle
31	chr2:57600000-57600200	Flanking Active TSS	A549	lung
32	chr2:57600000-57601000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:57600000-57601200	Enhancers	NH-A	brain
34	chr2:57600000-57601400	Enhancers	HMEC	breast
35	chr2:57600200-57601800	Enhancers	A549	lung
36	chr2:57601000-57601200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:57605600-57606400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:57613400-57614000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:57623200-57624000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:57623400-57623800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:57623400-57624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:57623400-57624200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:57623400-57624200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:57623400-57624200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:57623400-57624200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:57623400-57624200	Enhancers	A549	lung
47	chr2:57623400-57624200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:57623400-57624400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:57623600-57624000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:57623800-57624000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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