Variant report

Variant	esv3530172
Chromosome Location	chr14:68376932-68377229
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	chr14:68369979..68371799-chr14:68376616..68378250,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73280500	chr14:68376953-68376954	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574793142	chr14:68377013-68377014	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542012697	chr14:68377014-68377015	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566090359	chr14:68377040-68377041	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192845282	chr14:68377054-68377055	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533680148	chr14:68377071-68377072	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201591650	chr14:68377080-68377081	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576632132	chr14:68377122-68377123	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112538228	chr14:68377124-68377125	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	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	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68368400-68382200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68375600-68377200	Active TSS	Ovary	ovary
3	chr14:68375600-68377800	Weak transcription	Fetal Lung	lung
4	chr14:68375600-68385400	Weak transcription	Fetal Kidney	kidney
5	chr14:68376400-68377000	Enhancers	Fetal Muscle Leg	muscle
6	chr14:68376600-68377000	Weak transcription	Fetal Stomach	stomach
7	chr14:68376800-68377200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:68377000-68377400	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:68377000-68378200	Enhancers	Fetal Stomach	stomach
10	chr14:68377200-68377400	Weak transcription	Ovary	ovary
11	chr14:68377200-68377800	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links