Variant report

Variant	esv2328029
Chromosome Location	chr14:24932434-24932964
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	chr14:24925537..24927679-chr14:24931012..24933705,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 59 )

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	rs536699908	chr14:24932499-24932500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553358818	chr14:24932501-24932502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368911567	chr14:24932562-24932563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12895103	chr14:24932563-24932564	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12896259	chr14:24932570-24932571	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201609519	chr14:24932620-24932621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386775696	chr14:24932621-24932622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61999086	chr14:24932636-24932637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140218573	chr14:24932678-24932679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367917268	chr14:24932783-24932784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561666997	chr14:24932802-24932803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575028847	chr14:24932865-24932866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540226541	chr14:24932869-24932870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559937201	chr14:24932870-24932871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147722371	chr14:24932936-24932937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7141781	chr14:24932962-24932963	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24912800-24950800	Weak transcription	Gastric	stomach
2	chr14:24913000-24932800	Weak transcription	Primary T cells from cord blood	blood
3	chr14:24922200-24946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:24922800-24951000	Weak transcription	Pancreas	Pancrea
5	chr14:24923200-24937400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:24923600-24932600	Weak transcription	Right Ventricle	heart
7	chr14:24925800-24933400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:24926000-24936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:24926400-24934200	Weak transcription	Lung	lung
10	chr14:24927600-24951000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:24928200-24934400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:24928200-24950400	Weak transcription	HepG2	liver
13	chr14:24928400-24936000	Weak transcription	Liver	Liver
14	chr14:24928600-24951000	Weak transcription	Placenta	Placenta
15	chr14:24928800-24951000	Weak transcription	Spleen	Spleen
16	chr14:24929800-24934600	Weak transcription	Aorta	Aorta
17	chr14:24930800-24951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:24932000-24933000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:24932200-24933000	Enhancers	GM12878-XiMat	blood
20	chr14:24932400-24936000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:24932600-24935400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:24932800-24933200	Enhancers	Fetal Thymus	thymus
23	chr14:24932800-24935000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr14:24932800-24935400	Enhancers	Thymus	Thymus
25	chr14:24932800-24935600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:24932800-24935800	Enhancers	Primary T cells from cord blood	blood

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