Variant report

Variant	esv2152190
Chromosome Location	chr14:35563864-35563866
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	chr14:35560221..35562617-chr14:35563701..35566461,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092020	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs68042411	chr14:35563864-35563865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34870339	chr14:35563865-35563866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
2	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
3	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
4	chr14:35538200-35581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
6	chr14:35543200-35580800	Weak transcription	K562	blood
7	chr14:35545600-35564600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:35545600-35568600	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:35545600-35569800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:35545600-35580800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:35545600-35582800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:35545600-35590000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:35545800-35566400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:35546000-35568000	Strong transcription	Osteobl	bone
15	chr14:35546000-35581200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:35546000-35585800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:35546000-35587200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:35546200-35564800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:35546200-35566000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:35546200-35585000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:35546800-35571800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:35547000-35580800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:35547200-35574400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:35547200-35577600	Strong transcription	Placenta	Placenta
25	chr14:35547400-35565800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:35547400-35574000	Strong transcription	Adipose Nuclei	Adipose
27	chr14:35547400-35577800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:35547400-35580600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:35548000-35581000	Strong transcription	HepG2	liver
30	chr14:35548200-35580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:35548400-35578800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:35549600-35569000	Strong transcription	Liver	Liver
33	chr14:35550200-35586000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:35550800-35581000	Strong transcription	Dnd41	blood
35	chr14:35551000-35572800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:35551600-35579400	Weak transcription	NHEK	skin
37	chr14:35552000-35586600	Strong transcription	Fetal Thymus	thymus
38	chr14:35552600-35566000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr14:35552600-35568400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:35552600-35577600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:35552800-35568000	Strong transcription	Brain Germinal Matrix	brain
42	chr14:35553000-35570600	Strong transcription	Fetal Intestine Large	intestine
43	chr14:35553400-35589800	Weak transcription	Pancreas	Pancrea
44	chr14:35554200-35566200	Weak transcription	Spleen	Spleen
45	chr14:35555000-35576000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:35555000-35581200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:35555200-35564200	Weak transcription	Hela-S3	cervix
48	chr14:35555200-35567800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:35555400-35578800	Weak transcription	HMEC	breast
50	chr14:35555600-35568600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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