Variant report

Variant	nsv1052044
Chromosome Location	chr12:59221968-59238386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:59234626..59236504-chr12:59240784..59242945,3	MCF-7	breast:
2	chr12:59237534..59239932-chr12:59242148..59244207,2	MCF-7	breast:
3	chr12:59227368..59228360-chr12:59480589..59481215,3	MCF-7	breast:
4	chr12:59237601..59239530-chr12:59433065..59435700,2	MCF-7	breast:
5	chr12:59227394..59228307-chr12:59543616..59544500,4	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11172755	chr12:59234012-59234013	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557584741	chr12:59234040-59234041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200749130	chr12:59234064-59234065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575541807	chr12:59234067-59234068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11172756	chr12:59234072-59234073	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564334042	chr12:59234097-59234098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191894791	chr12:59234117-59234118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540703581	chr12:59234120-59234121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562055808	chr12:59234128-59234129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529261865	chr12:59234169-59234170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535637900	chr12:59234194-59234195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544285510	chr12:59234256-59234257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146205091	chr12:59234314-59234315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538159803	chr12:59234323-59234324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375931347	chr12:59234324-59234325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139176863	chr12:59234361-59234362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528975002	chr12:59234432-59234433	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566650942	chr12:59234467-59234468	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549070585	chr12:59234491-59234492	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527528414	chr12:59234502-59234503	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375134102	chr12:59234512-59234513	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144007894	chr12:59234549-59234550	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368179135	chr12:59234576-59234577	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567252292	chr12:59234595-59234596	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537807104	chr12:59234603-59234604	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555649177	chr12:59234620-59234621	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569354738	chr12:59234629-59234630	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555730045	chr12:59234775-59234776	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570953729	chr12:59234848-59234849	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200035903	chr12:59234851-59234852	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs538379298	chr12:59234862-59234863	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs74636842	chr12:59234864-59234865	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573064715	chr12:59234876-59234877	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183100505	chr12:59234877-59234878	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150928956	chr12:59234893-59234894	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs377364704	chr12:59234911-59234912	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs574062118	chr12:59234919-59234920	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534181517	chr12:59234937-59234938	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544735949	chr12:59234959-59234960	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs187923676	chr12:59234963-59234964	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117050898	chr12:59234997-59234998	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141123275	chr12:59235008-59235009	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189622899	chr12:59235009-59235010	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562769453	chr12:59235018-59235019	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548914457	chr12:59235023-59235024	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567493214	chr12:59235128-59235129	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182305827	chr12:59235135-59235136	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs549489749	chr12:59235148-59235149	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570892284	chr12:59235149-59235150	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74355759	chr12:59235173-59235174	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59234000-59236200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:59234200-59235200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:59234400-59235200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:59234400-59235600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:59234600-59235400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:59234600-59235400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:59234600-59235600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:59234600-59235600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:59234800-59235000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:59234800-59235400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:59234800-59235400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:59234800-59235600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:59234800-59235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:59235000-59235400	Enhancers	Lung	lung
15	chr12:59235000-59235400	Enhancers	HepG2	liver
16	chr12:59235000-59235600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:59235000-59235800	Active TSS	NHEK	skin
18	chr12:59235200-59235400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:59235200-59235600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:59235400-59235600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:59235400-59236200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:59235600-59235800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:59235600-59235800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:59235600-59240400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:59235600-59252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:59235800-59237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:59235800-59237800	Weak transcription	NHEK	skin
28	chr12:59236200-59240200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:59237800-59238000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:59237800-59238400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:59237800-59238400	Enhancers	NHEK	skin
32	chr12:59238000-59238400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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