Variant report

Variant	esv1927452
Chromosome Location	chr14:35398732-35399133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35343070..35344827-chr14:35397804..35399646,2	MCF-7	breast:
2	chr14:35347443..35349212-chr14:35398653..35401635,2	MCF-7	breast:
3	chr14:35397975..35400662-chr14:35403521..35405781,3	K562	blood:
4	chr14:35342311..35345634-chr14:35398849..35401832,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258738	chromatin interactions
ENSG00000198604	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557594469	chr14:35398756-35398757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566088131	chr14:35398764-35398765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs57423929	chr14:35398832-35398833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs398077686	chr14:35398840-35398841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs397697934	chr14:35398841-35398842	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200478636	chr14:35398842-35398843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144622325	chr14:35398849-35398850	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374867046	chr14:35398872-35398873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71121244	chr14:35398878-35398879	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539811437	chr14:35398879-35398880	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147953975	chr14:35398917-35398918	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573552831	chr14:35398981-35398982	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1738801	chr14:35399035-35399036	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187172792	chr14:35399048-35399049	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546567827	chr14:35399062-35399063	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562328849	chr14:35399067-35399068	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544320278	chr14:35399129-35399130	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35381400-35412200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:35389600-35411400	Weak transcription	Aorta	Aorta
3	chr14:35390000-35412600	Weak transcription	Ovary	ovary
4	chr14:35390200-35400600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:35393000-35404400	Weak transcription	Left Ventricle	heart
6	chr14:35394600-35424000	Weak transcription	Fetal Lung	lung
7	chr14:35395600-35399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:35396000-35400400	Weak transcription	A549	lung
9	chr14:35396400-35400200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:35396400-35400400	Weak transcription	Osteobl	bone
11	chr14:35396400-35425200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:35396600-35399600	Weak transcription	HUVEC	blood vessel
13	chr14:35396600-35424800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:35397200-35412800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:35397800-35399400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:35397800-35420600	Weak transcription	Thymus	Thymus
17	chr14:35398000-35408200	Weak transcription	Liver	Liver
18	chr14:35398200-35399200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:35398200-35399600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:35398200-35399800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:35398200-35399800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr14:35398200-35399800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:35398200-35399800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:35398200-35400800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:35398400-35399000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:35398400-35399200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:35398400-35401000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:35398400-35401200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr14:35398600-35399000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:35398600-35399800	Enhancers	Primary T cells from cord blood	blood
31	chr14:35398800-35410600	Weak transcription	Fetal Brain Male	brain
32	chr14:35399000-35399400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr14:35399000-35400000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr14:35399000-35412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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