Variant report

Variant	nsv559055
Chromosome Location	chr12:59904383-59916767
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	chr12:59914091..59917711-chr12:59989940..59992108,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192441262	chr12:59912421-59912422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546266126	chr12:59912431-59912432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150327582	chr12:59912643-59912644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558008411	chr12:59912658-59912659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371688093	chr12:59912678-59912679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573273369	chr12:59912682-59912683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578179034	chr12:59912703-59912704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144932679	chr12:59912730-59912731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573627014	chr12:59912768-59912769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115296539	chr12:59912783-59912784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184853900	chr12:59912790-59912791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575850944	chr12:59912793-59912794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546059784	chr12:59912803-59912804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35936753	chr12:59912826-59912827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564354534	chr12:59912874-59912875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528640829	chr12:59912877-59912878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540376183	chr12:59912887-59912888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562032516	chr12:59912897-59912898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368731843	chr12:59912924-59912925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529349782	chr12:59912942-59912943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369628317	chr12:59912979-59912980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188149192	chr12:59912985-59912986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533095069	chr12:59913004-59913005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10877301	chr12:59913026-59913027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574260530	chr12:59913049-59913050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180690091	chr12:59913088-59913089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149033639	chr12:59913092-59913093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143005517	chr12:59913109-59913110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139389391	chr12:59913122-59913123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556685390	chr12:59913146-59913147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114899104	chr12:59913154-59913155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386763461	chr12:59913173-59913174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189450963	chr12:59913187-59913188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546122848	chr12:59913206-59913207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375423928	chr12:59913214-59913215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370470678	chr12:59913231-59913232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181495617	chr12:59913251-59913252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370124353	chr12:59913356-59913357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561590372	chr12:59913359-59913360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201214816	chr12:59913374-59913375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3069854	chr12:59913376-59913377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573141753	chr12:59913417-59913418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186678941	chr12:59913442-59913443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562263112	chr12:59913459-59913460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112833348	chr12:59913483-59913484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529392027	chr12:59913534-59913535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530634872	chr12:59913587-59913588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543861935	chr12:59913728-59913729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544660612	chr12:59913754-59913755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562780084	chr12:59913781-59913782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Thoracic aortic aneurysm	21092924	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	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59912400-59921000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59913400-59914000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:59913600-59914000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:59913600-59914000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:59913600-59914000	Enhancers	Primary T helper cells PMA-I stimulated	--

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