Variant report

Variant	nsv976721
Chromosome Location	chr12:63608020-63615880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563389096	chr12:63612847-63612848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532456376	chr12:63612859-63612860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551451499	chr12:63612885-63612886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114741878	chr12:63612926-63612927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527754860	chr12:63612959-63612960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7308677	chr12:63612974-63612975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75034892	chr12:63613411-63613412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546104013	chr12:63613465-63613466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565129194	chr12:63613532-63613533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527722552	chr12:63613536-63613537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541038747	chr12:63613548-63613549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200231365	chr12:63613556-63613557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201255687	chr12:63613557-63613558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398098250	chr12:63613564-63613565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79158355	chr12:63613592-63613593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530157717	chr12:63613647-63613648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367800519	chr12:63613648-63613649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143772055	chr12:63613771-63613772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187399207	chr12:63613811-63613812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552873422	chr12:63613844-63613845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566385250	chr12:63613906-63613907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191550981	chr12:63613915-63613916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577294120	chr12:63613936-63613937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568125755	chr12:63613952-63613953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537183021	chr12:63614051-63614052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11174868	chr12:63614055-63614056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577012428	chr12:63614075-63614076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545772180	chr12:63614096-63614097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552810211	chr12:63614100-63614101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572806034	chr12:63614153-63614154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11174869	chr12:63614163-63614164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184079651	chr12:63614186-63614187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61936400	chr12:63614214-63614215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543924536	chr12:63614219-63614220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189711895	chr12:63614274-63614275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111965144	chr12:63614275-63614276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113109586	chr12:63614287-63614288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199707139	chr12:63614326-63614327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568348656	chr12:63614328-63614329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76372847	chr12:63614368-63614369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551875694	chr12:63614377-63614378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141940904	chr12:63614380-63614381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559151366	chr12:63614396-63614397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557055959	chr12:63614400-63614401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570465578	chr12:63614452-63614453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144342510	chr12:63614476-63614477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79872114	chr12:63614494-63614495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572767327	chr12:63614533-63614534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs41437645	chr12:63614546-63614547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557282090	chr12:63614592-63614593	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63612800-63613000	Enhancers	Fetal Kidney	kidney
2	chr12:63613400-63614600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:63614000-63615200	Enhancers	HMEC	breast
4	chr12:63614200-63620200	Enhancers	Liver	Liver
5	chr12:63614400-63615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:63614600-63614800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:63614600-63615200	Enhancers	Adipose Nuclei	Adipose
8	chr12:63614800-63615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:63615000-63615200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:63615200-63616200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:63615200-63616600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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