Variant report

Variant	nsv456196
Chromosome Location	chr2:34542319-34589009
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	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
2	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:

Extended variants
information (count: 734 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:734 , 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	rs4670344	chr2:34542319-34542320	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144841473	chr2:34542358-34542359	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs185203697	chr2:34542376-34542377	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs35582512	chr2:34542377-34542378	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569652405	chr2:34542413-34542414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576790601	chr2:34542422-34542423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539501972	chr2:34542445-34542446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369484483	chr2:34542452-34542453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190251817	chr2:34542507-34542508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139737503	chr2:34542516-34542517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541268516	chr2:34542540-34542541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561524166	chr2:34542559-34542560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575227459	chr2:34542566-34542567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543811282	chr2:34542583-34542584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563818848	chr2:34542596-34542597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372701710	chr2:34542615-34542616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143997774	chr2:34542631-34542632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146414705	chr2:34542635-34542636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6736815	chr2:34542682-34542683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552634049	chr2:34542721-34542722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6721933	chr2:34542730-34542731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528246537	chr2:34542756-34542757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76557846	chr2:34542768-34542769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12471617	chr2:34542833-34542834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12475811	chr2:34542861-34542862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74347574	chr2:34542881-34542882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140935900	chr2:34542887-34542888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142107142	chr2:34542890-34542891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13408057	chr2:34542896-34542897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182526767	chr2:34543049-34543050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151206897	chr2:34543074-34543075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555224406	chr2:34543077-34543078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3845767	chr2:34543150-34543151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188849714	chr2:34543160-34543161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13410911	chr2:34543175-34543176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78707405	chr2:34543196-34543197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398071267	chr2:34543198-34543199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150338368	chr2:34543254-34543255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573197226	chr2:34543261-34543262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191493495	chr2:34543281-34543282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569755319	chr2:34543297-34543298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138212868	chr2:34543326-34543327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528597089	chr2:34543332-34543333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142241522	chr2:34543368-34543369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184186658	chr2:34543375-34543376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4670345	chr2:34543379-34543380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs55865041	chr2:34543386-34543387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570658448	chr2:34543399-34543400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147043031	chr2:34543415-34543416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546293413	chr2:34543417-34543418	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Incontinentia Pigmenti	22033527	CNVD
Alcoholism	22295116	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34542000-34542400	Bivalent Enhancer	Fetal Heart	heart
2	chr2:34542400-34543600	Enhancers	Fetal Heart	heart
3	chr2:34549600-34550200	Bivalent Enhancer	Fetal Heart	heart
4	chr2:34553600-34560400	Weak transcription	Fetal Kidney	kidney
5	chr2:34556600-34556800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:34560400-34560800	Enhancers	Fetal Kidney	kidney
7	chr2:34570200-34571000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:34570200-34571000	Enhancers	Fetal Brain Female	brain
9	chr2:34570400-34570600	Enhancers	Fetal Heart	heart
10	chr2:34570400-34571200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:34571000-34571400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:34573400-34575400	Enhancers	Fetal Heart	heart
13	chr2:34578200-34579000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:34578400-34579200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:34578600-34579000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:34578600-34579400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:34578800-34579200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:34578800-34579200	Enhancers	Liver	Liver
19	chr2:34581600-34582000	Enhancers	Fetal Heart	heart
20	chr2:34584200-34584800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:34587400-34591400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:34587800-34590000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:34587800-34590800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:34588000-34588600	Enhancers	Fetal Kidney	kidney
25	chr2:34588000-34590600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:34588000-34590800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:34588200-34588400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:34588200-34590800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:34588400-34589200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:34588600-34589000	Weak transcription	Fetal Kidney	kidney
31	chr2:34588800-34589000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:34588800-34589400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:34588800-34590800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:34589000-34589200	Enhancers	Fetal Kidney	kidney
35	chr2:34589000-34589600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:34589000-34589800	Enhancers	Colon Smooth Muscle	Colon
37	chr2:34589000-34590200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:34589000-34590800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:34589000-34592400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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