Variant report

Variant	esv18532
Chromosome Location	chr14:24932115-24947813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24941879..24943792-chr14:24944086..24946470,2	MCF-7	breast:
2	chr14:24925537..24927679-chr14:24931012..24933705,2	MCF-7	breast:
3	chr14:24941879..24943792-chr14:24944086..24946470,2	MCF-7	breast:
4	chr14:24940138..24941029-chr14:24952690..24953556,3	MCF-7	breast:

Extended variants
information (count: 715 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545623641	chr14:24932126-24932127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565439512	chr14:24932155-24932156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2877643	chr14:24932158-24932159	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544862481	chr14:24932188-24932189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4424821	chr14:24932207-24932208	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs2877644	chr14:24932223-24932224	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546268752	chr14:24932273-24932274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116325746	chr14:24932279-24932280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532030790	chr14:24932287-24932288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147952262	chr14:24932327-24932328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568675325	chr14:24932354-24932355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2877645	chr14:24932363-24932364	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2332335	chr14:24932371-24932372	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568246605	chr14:24932381-24932382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72082531	chr14:24932403-24932404	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397838865	chr14:24932429-24932430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536699908	chr14:24932499-24932500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553358818	chr14:24932501-24932502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368911567	chr14:24932562-24932563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12895103	chr14:24932563-24932564	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12896259	chr14:24932570-24932571	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201609519	chr14:24932620-24932621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386775696	chr14:24932621-24932622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61999086	chr14:24932636-24932637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140218573	chr14:24932678-24932679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367917268	chr14:24932783-24932784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561666997	chr14:24932802-24932803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575028847	chr14:24932865-24932866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540226541	chr14:24932869-24932870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559937201	chr14:24932870-24932871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147722371	chr14:24932936-24932937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7141781	chr14:24932962-24932963	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551825276	chr14:24932991-24932992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527433154	chr14:24933129-24933130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs74883277	chr14:24933177-24933178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548082388	chr14:24933206-24933207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535795608	chr14:24933207-24933208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533806615	chr14:24933210-24933211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547034610	chr14:24933220-24933221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190200351	chr14:24933228-24933229	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12881242	chr14:24933255-24933256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539014891	chr14:24933314-24933315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113718842	chr14:24933340-24933341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs9788543	chr14:24933344-24933345	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538477943	chr14:24933404-24933405	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554818533	chr14:24933443-24933444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7142828	chr14:24933477-24933478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540489379	chr14:24933518-24933519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7142862	chr14:24933530-24933531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150225656	chr14:24933533-24933534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24912800-24950800	Weak transcription	Gastric	stomach
2	chr14:24913000-24932400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:24913000-24932800	Weak transcription	Primary T cells from cord blood	blood
4	chr14:24922200-24946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:24922800-24951000	Weak transcription	Pancreas	Pancrea
6	chr14:24923200-24937400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:24923600-24932600	Weak transcription	Right Ventricle	heart
8	chr14:24925800-24933400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:24926000-24936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:24926400-24934200	Weak transcription	Lung	lung
11	chr14:24927600-24951000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24928200-24934400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:24928200-24950400	Weak transcription	HepG2	liver
14	chr14:24928400-24936000	Weak transcription	Liver	Liver
15	chr14:24928600-24951000	Weak transcription	Placenta	Placenta
16	chr14:24928800-24951000	Weak transcription	Spleen	Spleen
17	chr14:24929800-24932400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:24929800-24934600	Weak transcription	Aorta	Aorta
19	chr14:24930800-24951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:24932000-24933000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:24932200-24933000	Enhancers	GM12878-XiMat	blood
22	chr14:24932400-24936000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:24932600-24935400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:24932800-24933200	Enhancers	Fetal Thymus	thymus
25	chr14:24932800-24935000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr14:24932800-24935400	Enhancers	Thymus	Thymus
27	chr14:24932800-24935600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:24932800-24935800	Enhancers	Primary T cells from cord blood	blood
29	chr14:24933000-24933600	Flanking Active TSS	GM12878-XiMat	blood
30	chr14:24933000-24935200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:24933000-24935400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr14:24933000-24935600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:24933000-24951400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:24933200-24934400	Weak transcription	Fetal Thymus	thymus
35	chr14:24933200-24935600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr14:24933600-24934600	Enhancers	GM12878-XiMat	blood
37	chr14:24934000-24934400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:24934400-24934800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr14:24934400-24934800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:24934400-24935400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:24934400-24935400	Enhancers	Fetal Thymus	thymus
42	chr14:24934600-24934800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:24935400-24948400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:24936000-24936200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:24937000-24937200	ZNF genes & repeats	Aorta	Aorta
46	chr14:24941600-24951000	Weak transcription	Adipose Nuclei	Adipose
47	chr14:24942400-24949800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:24942400-24950600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:24943000-24951000	Weak transcription	Fetal Intestine Large	intestine
50	chr14:24943600-24945600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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