Variant report

Variant	nsv523796
Chromosome Location	chr14:70374122-70386743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70382727..70385452-chr14:70388127..70390394,2	MCF-7	breast:
2	chr14:70383500..70385799-chr14:70386074..70388003,2	MCF-7	breast:
3	chr14:70376176..70378536-chr14:70378709..70380533,2	MCF-7	breast:
4	chr14:70376176..70378536-chr14:70378709..70380533,2	MCF-7	breast:
5	chr14:70382423..70384132-chr14:70408003..70410607,2	MCF-7	breast:
6	chr14:70377640..70380047-chr14:70391556..70394013,3	MCF-7	breast:
7	chr14:70368721..70371332-chr14:70372766..70374349,2	MCF-7	breast:
8	chr14:70383500..70385799-chr14:70386074..70388003,2	MCF-7	breast:

No data

Extended variants
information (count: 441 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1275842	chr14:70374122-70374123	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367940163	chr14:70374130-70374131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142153858	chr14:70374137-70374138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146013387	chr14:70374172-70374173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537566155	chr14:70374210-70374211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138929199	chr14:70374242-70374243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567561982	chr14:70374269-70374270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141485591	chr14:70374302-70374303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188998851	chr14:70374305-70374306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181990560	chr14:70374347-70374348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114217068	chr14:70374355-70374356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557561402	chr14:70374433-70374434	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575796656	chr14:70374479-70374480	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543121885	chr14:70374492-70374493	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150379390	chr14:70374525-70374526	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573648671	chr14:70374564-70374565	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541061939	chr14:70374631-70374632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187409893	chr14:70374680-70374681	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533693660	chr14:70374701-70374702	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552074431	chr14:70374738-70374739	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563888549	chr14:70374804-70374805	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531087471	chr14:70374809-70374810	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190741455	chr14:70374833-70374834	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34654926	chr14:70374861-70374862	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567795406	chr14:70374867-70374868	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557724498	chr14:70374884-70374885	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386778571	chr14:70374910-70374911	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534801731	chr14:70374917-70374918	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547009490	chr14:70374941-70374942	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369213478	chr14:70374947-70374948	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2475401	chr14:70374976-70374977	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550985421	chr14:70375069-70375070	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181069712	chr14:70375132-70375133	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2475400	chr14:70375205-70375206	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539372630	chr14:70375210-70375211	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs185617664	chr14:70375250-70375251	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138117480	chr14:70375277-70375278	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114471771	chr14:70375377-70375378	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190379699	chr14:70375469-70375470	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573714809	chr14:70375509-70375510	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540745900	chr14:70375510-70375511	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552954870	chr14:70375561-70375562	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs36103344	chr14:70375590-70375591	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577678817	chr14:70375606-70375607	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143641408	chr14:70375607-70375608	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs117029769	chr14:70375623-70375624	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs1296571	chr14:70375626-70375627	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531228821	chr14:70375695-70375696	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149567873	chr14:70375774-70375775	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561311751	chr14:70375785-70375786	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70364000-70387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70368600-70377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70368800-70379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:70368800-70379600	Weak transcription	Liver	Liver
5	chr14:70369000-70375800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:70369200-70376600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:70371400-70377000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:70371400-70377200	Weak transcription	HepG2	liver
9	chr14:70371600-70375200	Weak transcription	Brain Substantia Nigra	brain
10	chr14:70372000-70388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70372400-70382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:70372600-70375400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70373000-70374200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:70373000-70375200	Weak transcription	Hela-S3	cervix
15	chr14:70373200-70377000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:70373400-70374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:70373600-70383600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70374200-70375000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:70374400-70375200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:70374400-70375600	Enhancers	GM12878-XiMat	blood
21	chr14:70375000-70375200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:70375000-70376000	Active TSS	Duodenum Mucosa	Duodenum
23	chr14:70375200-70375400	Enhancers	Hela-S3	cervix
24	chr14:70375200-70375600	Enhancers	Brain Germinal Matrix	brain
25	chr14:70375200-70378200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:70375200-70378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:70375200-70378400	Enhancers	Brain Substantia Nigra	brain
28	chr14:70375400-70375800	Weak transcription	Hela-S3	cervix
29	chr14:70375400-70378200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:70375600-70377400	Weak transcription	Brain Germinal Matrix	brain
31	chr14:70375800-70376400	Genic enhancers	Hela-S3	cervix
32	chr14:70375800-70378400	Enhancers	Brain Hippocampus Middle	brain
33	chr14:70376000-70376200	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:70376200-70377400	Enhancers	Fetal Brain Male	brain
35	chr14:70376400-70377800	Enhancers	Fetal Brain Female	brain
36	chr14:70376400-70378000	Enhancers	Brain Anterior Caudate	brain
37	chr14:70376400-70378000	Strong transcription	Hela-S3	cervix
38	chr14:70376600-70377800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:70376600-70378200	Enhancers	Brain Cingulate Gyrus	brain
40	chr14:70376600-70378400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr14:70376800-70378200	Enhancers	Brain Angular Gyrus	brain
42	chr14:70377000-70377800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr14:70377000-70378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:70377200-70378000	Enhancers	HepG2	liver
45	chr14:70377400-70377600	Enhancers	Brain Germinal Matrix	brain
46	chr14:70377400-70377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:70377400-70378200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:70377400-70384000	Weak transcription	Fetal Brain Male	brain
49	chr14:70377600-70378000	Enhancers	Fetal Stomach	stomach
50	chr14:70377600-70378000	Enhancers	HMEC	breast

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