Variant report

Variant	esv1998467
Chromosome Location	chr14:35401332-35401913
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	chr14:35342311..35345634-chr14:35398849..35401832,3	MCF-7	breast:
2	chr14:35347443..35349212-chr14:35398653..35401635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198604	chromatin interactions
ENSG00000258738	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549797109	chr14:35401346-35401347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs144627191	chr14:35401388-35401389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572269095	chr14:35401414-35401415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534779218	chr14:35401415-35401416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554811156	chr14:35401416-35401417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574936922	chr14:35401421-35401422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9944134	chr14:35401492-35401493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56756157	chr14:35401716-35401717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369783372	chr14:35401717-35401718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372333619	chr14:35401718-35401719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs712309	chr14:35401767-35401768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563662137	chr14:35401822-35401823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143614609	chr14:35401882-35401883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566956020	chr14:35401909-35401910	Weak transcription Enhancers	n/a	n/a	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:43 , 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	chr14:35393000-35404400	Weak transcription	Left Ventricle	heart
5	chr14:35394600-35424000	Weak transcription	Fetal Lung	lung
6	chr14:35396400-35425200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:35396600-35424800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:35397200-35412800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:35397800-35420600	Weak transcription	Thymus	Thymus
10	chr14:35398000-35408200	Weak transcription	Liver	Liver
11	chr14:35398800-35410600	Weak transcription	Fetal Brain Male	brain
12	chr14:35399000-35412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:35399400-35402200	Weak transcription	HepG2	liver
14	chr14:35399400-35406800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:35399600-35412200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:35399800-35401400	Enhancers	Stomach Mucosa	stomach
17	chr14:35399800-35404400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:35400200-35401400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr14:35400400-35401400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:35400600-35427000	Weak transcription	Primary B cells from cord blood	blood
21	chr14:35400800-35401400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr14:35400800-35401400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:35400800-35402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:35400800-35402800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:35400800-35404400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:35400800-35404400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr14:35400800-35412200	Weak transcription	Adipose Nuclei	Adipose
28	chr14:35401000-35402200	Weak transcription	NHDF-Ad	bronchial
29	chr14:35401000-35402400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:35401000-35404400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:35401000-35411200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:35401000-35421400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:35401000-35428800	Weak transcription	GM12878-XiMat	blood
34	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:35401200-35402200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:35401200-35404800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:35401200-35408800	Weak transcription	Primary T cells from cord blood	blood
38	chr14:35401400-35402400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:35401400-35412200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr14:35401400-35412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:35401400-35412600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:35401400-35428800	Weak transcription	Stomach Mucosa	stomach
43	chr14:35401800-35411600	Weak transcription	Brain Angular Gyrus	brain

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