Variant report

Variant	nsv516373
Chromosome Location	chr14:35556480-35556498
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	chr14:35556172..35559296-chr14:35562772..35565829,3	MCF-7	breast:
2	chr14:35552593..35554577-chr14:35554998..35557782,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092020	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17103033	chr14:35556480-35556481	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554784308	chr14:35556495-35556496	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570010577	chr14:35556496-35556497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10483452	chr14:35556498-35556499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:35528200-35559400	Weak transcription	Colonic Mucosa	Colon
4	chr14:35528800-35563200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
6	chr14:35530600-35563600	Weak transcription	Small Intestine	intestine
7	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
8	chr14:35531400-35563400	Weak transcription	Gastric	stomach
9	chr14:35538200-35581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:35538400-35559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
12	chr14:35543200-35580800	Weak transcription	K562	blood
13	chr14:35545600-35559800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:35545600-35564600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:35545600-35568600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:35545600-35569800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:35545600-35580800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:35545600-35582800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:35545600-35590000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:35545800-35566400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:35546000-35558600	Strong transcription	Left Ventricle	heart
22	chr14:35546000-35568000	Strong transcription	Osteobl	bone
23	chr14:35546000-35581200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:35546000-35585800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:35546000-35587200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:35546200-35560400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:35546200-35564800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:35546200-35566000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:35546200-35585000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:35546800-35571800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:35547000-35558000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:35547000-35580800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:35547200-35574400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr14:35547200-35577600	Strong transcription	Placenta	Placenta
35	chr14:35547400-35565800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:35547400-35574000	Strong transcription	Adipose Nuclei	Adipose
37	chr14:35547400-35577800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr14:35547400-35580600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:35548000-35558200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:35548000-35563200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr14:35548000-35581000	Strong transcription	HepG2	liver
42	chr14:35548200-35580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:35548400-35578800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:35548600-35563400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:35549600-35558600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:35549600-35559400	Weak transcription	Fetal Lung	lung
47	chr14:35549600-35569000	Strong transcription	Liver	Liver
48	chr14:35550200-35586000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:35550600-35559600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:35550800-35581000	Strong transcription	Dnd41	blood

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