Variant report

Variant	nsv975609
Chromosome Location	chr12:74447865-74472394
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	chr12:74447256..74448968-chr12:74473500..74476491,2	MCF-7	breast:
2	chr12:74443201..74445435-chr12:74461454..74463551,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557936170	chr12:74449000-74449001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80349730	chr12:74449021-74449022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74105140	chr12:74449022-74449023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563229379	chr12:74449048-74449049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74105141	chr12:74449100-74449101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528312748	chr12:74449169-74449170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543007725	chr12:74449208-74449209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559445664	chr12:74449233-74449234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376225682	chr12:74449261-74449262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548035068	chr12:74449354-74449355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79308023	chr12:74449371-74449372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17113000	chr12:74449383-74449384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2365430	chr12:74460203-74460204	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2365429	chr12:74460213-74460214	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs207473088	chr12:74460217-74460218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142770666	chr12:74460224-74460225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548708410	chr12:74460242-74460243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559019905	chr12:74460251-74460252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115819813	chr12:74460275-74460276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377077650	chr12:74460287-74460288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551294337	chr12:74460291-74460292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368889890	chr12:74460329-74460330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571382892	chr12:74460382-74460383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541956893	chr12:74460383-74460384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550838256	chr12:74460388-74460389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567596365	chr12:74460423-74460424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12316659	chr12:74460431-74460432	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75617695	chr12:74460439-74460440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543212510	chr12:74460446-74460447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200117450	chr12:74460460-74460461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115550583	chr12:74460502-74460503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539101602	chr12:74460584-74460585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs146948737	chr12:74460596-74460597	ZNF genes & repeats	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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74449000-74449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:74460200-74460600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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