Variant report

Variant	nsv79674
Chromosome Location	chr14:67819578-67819578
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	chr14:67817307..67820185-chr14:67826327..67829228,3	MCF-7	breast:
2	chr14:67809333..67811728-chr14:67818021..67819593,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134001	chromatin interactions
ENSG00000100554	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398025488	chr14:67819578-67819579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
3	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:67791600-67820000	Weak transcription	Pancreas	Pancrea
6	chr14:67797000-67820800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:67798400-67820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:67800000-67825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:67800400-67820200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:67805200-67819600	Weak transcription	Esophagus	oesophagus
11	chr14:67805200-67823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:67808400-67820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:67808400-67823400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:67808600-67820200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr14:67808600-67820400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr14:67808800-67820200	Strong transcription	Adipose Nuclei	Adipose
17	chr14:67809000-67820000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:67809000-67820000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:67809000-67820200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:67809000-67820200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:67809000-67820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:67809000-67820200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:67809000-67820200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:67809000-67820200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:67809000-67820200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:67809000-67820200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:67809000-67820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:67809000-67820200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr14:67809000-67820200	Strong transcription	Placenta	Placenta
30	chr14:67809000-67820200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr14:67809000-67820400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:67809000-67820800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:67809200-67820600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:67809200-67820800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:67809600-67820200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:67809600-67820200	Strong transcription	Osteobl	bone
37	chr14:67809800-67819600	Strong transcription	Liver	Liver
38	chr14:67809800-67820000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr14:67809800-67820400	Strong transcription	Left Ventricle	heart
40	chr14:67810000-67820000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:67810000-67820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:67810000-67820200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr14:67810000-67820800	Strong transcription	Fetal Muscle Leg	muscle
44	chr14:67810000-67820800	Strong transcription	HSMMtube	muscle
45	chr14:67810400-67820200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:67811000-67823200	Weak transcription	K562	blood
47	chr14:67811000-67823400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:67811200-67823200	Weak transcription	Fetal Heart	heart
49	chr14:67811400-67824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:67811400-67824400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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