Variant report

Variant	esv2421373
Chromosome Location	chr12:62202570-62210820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62202859..62205384-chr12:62210206..62212570,2	MCF-7	breast:
2	chr12:62202859..62205384-chr12:62210206..62212570,2	MCF-7	breast:
3	chr12:62199096..62201895-chr12:62204171..62205825,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373203203	chr12:62202577-62202578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377139856	chr12:62202590-62202591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573061160	chr12:62202591-62202592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144826448	chr12:62202596-62202597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182235854	chr12:62202601-62202602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140157457	chr12:62202652-62202653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575248300	chr12:62202685-62202686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145675656	chr12:62202700-62202701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147551284	chr12:62202748-62202749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533766595	chr12:62202764-62202765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553810051	chr12:62202770-62202771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs574409271	chr12:62202799-62202800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146151126	chr12:62202806-62202807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531211773	chr12:62202835-62202836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140302301	chr12:62202855-62202856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551024894	chr12:62202867-62202868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114083348	chr12:62202887-62202888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs80143629	chr12:62202923-62202924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369385283	chr12:62202949-62202950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139358666	chr12:62202950-62202951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185628747	chr12:62202969-62202970	ZNF genes & repeats	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
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
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
Hodgkin''s lymphoma	18179710	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
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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62199800-62203000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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