Variant report

Variant	esv3330167
Chromosome Location	chr12:64551056-64551657
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	chr12:64544303..64546413-chr12:64549657..64551818,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570119373	chr12:64551109-64551110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533019108	chr12:64551125-64551126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546510762	chr12:64551188-64551189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566635597	chr12:64551206-64551207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74097929	chr12:64551207-64551208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113011235	chr12:64551258-64551259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563286731	chr12:64551277-64551278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1691633	chr12:64551320-64551321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10784384	chr12:64551340-64551341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139409442	chr12:64551352-64551353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145131767	chr12:64551380-64551381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577324662	chr12:64551395-64551396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565493142	chr12:64551463-64551464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116179083	chr12:64551570-64551571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553731880	chr12:64551583-64551584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573370956	chr12:64551589-64551590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Cancer	20164920	CNVD
Liposarcoma	21253554	CNVD
Gastric cancer	17229543	CNVD
Uterine leiomyoma	18403592	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64531600-64554400	Weak transcription	NH-A	brain
2	chr12:64538000-64553400	Weak transcription	HMEC	breast
3	chr12:64540000-64553400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:64540000-64553400	Weak transcription	NHEK	skin
5	chr12:64540400-64553400	Weak transcription	Osteobl	bone
6	chr12:64540400-64553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:64540400-64558800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:64541400-64554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:64542400-64553800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:64543200-64553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:64543600-64554000	Weak transcription	HSMM	muscle
12	chr12:64543800-64553400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:64544200-64553800	Weak transcription	NHLF	lung
14	chr12:64546600-64553200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:64548800-64553200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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