Variant report

Variant	esv3451900
Chromosome Location	chr14:72650800-72651099
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	chr14:72638416..72640679-chr14:72649265..72651045,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568321601	chr14:72650802-72650803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10148272	chr14:72650820-72650821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs554045651	chr14:72650828-72650829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565493090	chr14:72650846-72650847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200447287	chr14:72650853-72650854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539094568	chr14:72650859-72650860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533658022	chr14:72650902-72650903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146909673	chr14:72650929-72650930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529009045	chr14:72650998-72650999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544379161	chr14:72651060-72651061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370475600	chr14:72651077-72651078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146095524	chr14:72651078-72651079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186392612	chr14:72651087-72651088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72644200-72652400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72646000-72653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:72646200-72652400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72649600-72652800	Weak transcription	Aorta	Aorta
5	chr14:72650200-72651000	Enhancers	Fetal Stomach	stomach
6	chr14:72650400-72651000	Enhancers	Fetal Lung	lung
7	chr14:72650600-72652800	Weak transcription	Adipose Nuclei	Adipose
8	chr14:72650800-72651000	Enhancers	Rectal Smooth Muscle	rectum
9	chr14:72651000-72652400	Weak transcription	Fetal Stomach	stomach
10	chr14:72651000-72652800	Weak transcription	Fetal Lung	lung

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