Variant report

Variant	esv3328445
Chromosome Location	chr12:60482578-60482982
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	chr12:60473802..60475803-chr12:60480234..60482937,2	MCF-7	breast:
2	chr12:60481263..60483527-chr12:60485827..60488653,2	K562	blood:

Variant related genes	Relation type
ENSG00000257294	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 83 )

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	rs575266879	chr12:60482594-60482595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563881379	chr12:60482615-60482616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12311074	chr12:60482624-60482625	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577528275	chr12:60482697-60482698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540176226	chr12:60482703-60482704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560012557	chr12:60482717-60482718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529278064	chr12:60482749-60482750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs151017756	chr12:60482769-60482770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562855465	chr12:60482789-60482790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371304310	chr12:60482790-60482791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76100402	chr12:60482812-60482813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575057989	chr12:60482857-60482858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375178325	chr12:60482858-60482859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369681299	chr12:60482869-60482870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551684949	chr12:60482871-60482872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114940646	chr12:60482877-60482878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527875811	chr12:60482884-60482885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74096000	chr12:60482885-60482886	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547444951	chr12:60482912-60482913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112941900	chr12:60482925-60482926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535476623	chr12:60482945-60482946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60478000-60489000	Weak transcription	Pancreas	Pancrea
2	chr12:60478600-60492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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