Variant report

Variant	nsv1043758
Chromosome Location	chr12:87474612-87515109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:87512654..87515691-chr12:87528653..87530382,3	MCF-7	breast:
2	chr12:87512190..87514558-chr12:87523597..87525941,2	K562	blood:
3	chr12:87513960..87515515-chr12:87520858..87523427,2	MCF-7	breast:
4	chr12:87507574..87509719-chr12:87517143..87519195,2	MCF-7	breast:

Extended variants
information (count: 701 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:701 , 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	rs576785277	chr12:87480005-87480006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144623736	chr12:87480030-87480031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559401943	chr12:87480061-87480062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564889035	chr12:87480085-87480086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138740467	chr12:87480147-87480148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568044228	chr12:87480190-87480191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142175918	chr12:87480194-87480195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541662053	chr12:87480196-87480197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561631859	chr12:87480246-87480247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377308418	chr12:87480416-87480417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11611298	chr12:87480476-87480477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550874238	chr12:87480484-87480485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569108972	chr12:87480524-87480525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187668097	chr12:87480538-87480539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567013804	chr12:87480596-87480597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536043734	chr12:87480657-87480658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529932980	chr12:87480666-87480667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7974893	chr12:87480745-87480746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35703465	chr12:87480759-87480760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71447000	chr12:87480761-87480762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534287457	chr12:87480807-87480808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370553788	chr12:87480859-87480860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17014430	chr12:87480945-87480946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191953377	chr12:87480946-87480947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116282035	chr12:87480974-87480975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77324979	chr12:87480995-87480996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539465880	chr12:87480999-87481000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10600695	chr12:87489818-87489819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7299126	chr12:87489820-87489821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150305323	chr12:87489846-87489847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535494528	chr12:87489919-87489920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191153669	chr12:87489952-87489953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181888908	chr12:87489987-87489988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537687484	chr12:87490025-87490026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535491874	chr12:87490076-87490077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186951241	chr12:87490109-87490110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558070378	chr12:87490110-87490111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555627922	chr12:87490166-87490167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191830318	chr12:87490193-87490194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534098432	chr12:87490230-87490231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183015704	chr12:87490240-87490241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117263148	chr12:87490263-87490264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11104276	chr12:87490326-87490327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377576375	chr12:87490335-87490336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562887209	chr12:87490381-87490382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73197871	chr12:87490384-87490385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545306821	chr12:87490386-87490387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568178170	chr12:87490447-87490448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35968489	chr12:87490449-87490450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527944940	chr12:87490503-87490504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87480000-87480400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87480400-87480600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:87480600-87481000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:87489800-87490200	Enhancers	Fetal Brain Female	brain
5	chr12:87490000-87492200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:87490200-87491200	Weak transcription	Fetal Brain Female	brain
7	chr12:87491200-87491400	Enhancers	Fetal Brain Female	brain
8	chr12:87492200-87492600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:87499200-87499400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:87499200-87501400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:87499600-87500600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:87500600-87501600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:87500600-87502600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:87500600-87502800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:87500800-87502400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:87501000-87501200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:87501000-87501400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:87501000-87502600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:87501000-87502800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:87501200-87501600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:87501200-87502800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:87501400-87501800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:87501400-87502400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:87501400-87502600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:87501600-87502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:87501600-87502800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:87501800-87503000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:87502400-87502600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:87502400-87502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:87502600-87502800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:87502600-87510600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:87503000-87506800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:87505800-87507000	Enhancers	Fetal Brain Male	brain
34	chr12:87506000-87506200	Enhancers	Fetal Brain Female	brain
35	chr12:87506200-87509400	Weak transcription	Fetal Brain Female	brain
36	chr12:87506600-87507000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:87506800-87507000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:87506800-87507400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:87507000-87509800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:87507000-87514400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:87509400-87509600	Enhancers	Fetal Brain Female	brain
42	chr12:87509600-87510000	Weak transcription	Fetal Brain Female	brain
43	chr12:87510000-87510200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:87510000-87510400	Enhancers	Fetal Brain Female	brain
45	chr12:87510200-87510800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:87510200-87511000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:87510200-87511200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:87510200-87511600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:87510200-87511600	Enhancers	Fetal Heart	heart
50	chr12:87510400-87511200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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