Variant report

Variant	esv2293175
Chromosome Location	chr14:36768667-36768668
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	chr14:36757907..36759500-chr14:36766689..36768870,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 61 )

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	rs34724648	chr14:36768667-36768668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570347122	chr14:36768668-36768669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:36762000-36770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:36762000-36778800	Weak transcription	Fetal Intestine Small	intestine
4	chr14:36762600-36769800	Weak transcription	NHLF	lung
5	chr14:36763400-36769600	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:36763800-36777800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:36764400-36784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:36764800-36769000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:36764800-36769000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:36764800-36769600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:36764800-36770800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr14:36765000-36769200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:36765000-36769400	Strong transcription	HepG2	liver
14	chr14:36765000-36779400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:36765000-36781200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:36765200-36769000	Strong transcription	HSMM	muscle
17	chr14:36765200-36781400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:36765400-36769000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr14:36765400-36769000	Strong transcription	Brain Hippocampus Middle	brain
20	chr14:36765400-36771000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:36765400-36773000	Strong transcription	Fetal Brain Female	brain
22	chr14:36765400-36775200	Strong transcription	Adipose Nuclei	Adipose
23	chr14:36765400-36781400	Strong transcription	Placenta	Placenta
24	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:36765600-36768800	Strong transcription	HMEC	breast
26	chr14:36765600-36769200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:36765600-36770800	Strong transcription	Fetal Lung	lung
28	chr14:36765600-36781000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:36765800-36769000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:36765800-36769000	Strong transcription	HUVEC	blood vessel
31	chr14:36765800-36769600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:36765800-36769600	Strong transcription	Osteobl	bone
33	chr14:36765800-36770000	Strong transcription	Liver	Liver
34	chr14:36765800-36770400	Strong transcription	Brain Anterior Caudate	brain
35	chr14:36765800-36771000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:36765800-36771000	Strong transcription	Fetal Intestine Large	intestine
37	chr14:36765800-36771200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:36765800-36772000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:36765800-36775600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:36765800-36776400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:36765800-36780000	Weak transcription	K562	blood
42	chr14:36765800-36781000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:36765800-36781200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:36765800-36782200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:36766000-36768800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr14:36766000-36768800	Strong transcription	NHDF-Ad	bronchial
47	chr14:36766000-36769400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr14:36766000-36769800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:36766000-36770600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:36766000-36771000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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