Variant report

Variant	esv12764
Chromosome Location	chr14:25364369-25365119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531900846	chr14:25364405-25364406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs113152599	chr14:25364428-25364429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs17185348	chr14:25364432-25364433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs78254039	chr14:25364468-25364469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77891808	chr14:25364489-25364490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs193130702	chr14:25364501-25364502	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570455272	chr14:25364535-25364536	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185776573	chr14:25364560-25364561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556210457	chr14:25364598-25364599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569935841	chr14:25364629-25364630	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533569455	chr14:25364657-25364658	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55903316	chr14:25364671-25364672	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1241592	chr14:25364674-25364675	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372888009	chr14:25364697-25364698	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1241591	chr14:25364701-25364702	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76517716	chr14:25364702-25364703	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554192838	chr14:25364722-25364723	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201735437	chr14:25364731-25364732	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1241590	chr14:25364766-25364767	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1241589	chr14:25364789-25364790	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562566450	chr14:25364824-25364825	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs996271	chr14:25364860-25364861	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190248673	chr14:25364882-25364883	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534668649	chr14:25364914-25364915	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529786710	chr14:25364931-25364932	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572670382	chr14:25364935-25364936	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562290315	chr14:25364968-25364969	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80284217	chr14:25364977-25364978	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1241587	chr14:25364993-25364994	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564133764	chr14:25365008-25365009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372698036	chr14:25365013-25365014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533081157	chr14:25365068-25365069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1241586	chr14:25365098-25365099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182023450	chr14:25365099-25365100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1241585	chr14:25365105-25365106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25350600-25364600	Weak transcription	NHDF-Ad	bronchial
2	chr14:25358400-25369800	Weak transcription	HSMM	muscle
3	chr14:25359200-25369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:25360400-25364600	Weak transcription	Psoas Muscle	Psoas
5	chr14:25360600-25369200	Weak transcription	Fetal Lung	lung
6	chr14:25362200-25364600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:25362200-25369400	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:25362400-25378400	Weak transcription	Lung	lung
9	chr14:25362600-25364600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:25362800-25364600	Weak transcription	Pancreas	Pancrea
11	chr14:25363000-25364400	Weak transcription	Fetal Heart	heart
12	chr14:25363400-25365400	Enhancers	Right Ventricle	heart
13	chr14:25363400-25366000	Enhancers	Brain Substantia Nigra	brain
14	chr14:25363600-25364400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:25363600-25364600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:25363600-25364800	Enhancers	Fetal Intestine Small	intestine
17	chr14:25363600-25365400	Enhancers	Brain Anterior Caudate	brain
18	chr14:25363600-25365600	Enhancers	Left Ventricle	heart
19	chr14:25363800-25364600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr14:25363800-25365200	Enhancers	Brain Hippocampus Middle	brain
21	chr14:25364000-25364400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:25364000-25364400	Weak transcription	Brain Angular Gyrus	brain
23	chr14:25364000-25364400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:25364000-25365000	Enhancers	Colon Smooth Muscle	Colon
25	chr14:25364000-25367400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:25364200-25364400	Weak transcription	Right Atrium	heart
27	chr14:25364400-25364600	Enhancers	Brain Angular Gyrus	brain
28	chr14:25364400-25364800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:25364400-25364800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:25364400-25364800	Enhancers	Right Atrium	heart
31	chr14:25364400-25365000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:25364400-25366200	Enhancers	Fetal Heart	heart
33	chr14:25364600-25364800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:25364600-25364800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:25364600-25365000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:25364600-25365000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr14:25364600-25365200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:25364600-25365400	Enhancers	Psoas Muscle	Psoas
39	chr14:25364600-25365400	Enhancers	NHDF-Ad	bronchial
40	chr14:25364600-25365600	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:25364600-25366200	Enhancers	Pancreas	Pancrea
42	chr14:25364600-25367000	Weak transcription	Brain Angular Gyrus	brain
43	chr14:25364600-25372400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:25364800-25365000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:25364800-25365200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:25364800-25367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:25364800-25369200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:25364800-25370000	Weak transcription	Right Atrium	heart
49	chr14:25364800-25379800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:25365000-25369000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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