Variant report

Variant	esv3382086
Chromosome Location	chr12:106436668-106437029
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	chr12:106436023..106438944-chr12:106457354..106459862,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545616275	chr12:106436681-106436682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76288518	chr12:106436753-106436754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563720683	chr12:106436766-106436767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61940195	chr12:106436777-106436778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567375761	chr12:106436859-106436860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4628787	chr12:106436935-106436936	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145134636	chr12:106436950-106436951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148685022	chr12:106436965-106436966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535037530	chr12:106436988-106436989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61194268	chr12:106436992-106436993	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106427600-106438600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:106427600-106438600	Weak transcription	A549	lung
4	chr12:106431600-106438000	Strong transcription	HSMMtube	muscle
5	chr12:106433400-106440400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:106433400-106444400	Weak transcription	Right Ventricle	heart
7	chr12:106433800-106438600	Weak transcription	HSMM	muscle
8	chr12:106433800-106443400	Weak transcription	Gastric	stomach
9	chr12:106434600-106439400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:106434600-106445400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:106436200-106438600	Weak transcription	Fetal Lung	lung
12	chr12:106436200-106440600	Weak transcription	Fetal Brain Male	brain

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