Variant report

Variant	esv2101099
Chromosome Location	chr14:71396841-71396843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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	rs7149960	chr14:71396842-71396843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71375600-71398400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71376000-71401000	Weak transcription	Lung	lung
3	chr14:71376600-71398400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
5	chr14:71379600-71408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:71379600-71410400	Weak transcription	Aorta	Aorta
7	chr14:71380000-71398200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:71380400-71400800	Weak transcription	Fetal Intestine Large	intestine
9	chr14:71384000-71401200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:71384200-71408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:71384600-71402000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:71386800-71400600	Weak transcription	Fetal Stomach	stomach
13	chr14:71387000-71398000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:71387200-71408400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:71388200-71402000	Weak transcription	HSMM	muscle
16	chr14:71388200-71410400	Weak transcription	Thymus	Thymus
17	chr14:71388400-71400800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:71388800-71397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:71388800-71400200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:71388800-71400400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:71388800-71400600	Weak transcription	NHLF	lung
22	chr14:71388800-71408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:71389000-71400400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:71389200-71398600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr14:71389800-71400600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:71392800-71401600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:71393200-71400800	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:71393400-71397000	Weak transcription	Brain Substantia Nigra	brain
29	chr14:71393400-71397800	Weak transcription	Fetal Lung	lung
30	chr14:71393400-71397800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:71393400-71400200	Weak transcription	GM12878-XiMat	blood
32	chr14:71393400-71408800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:71393600-71400800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:71393800-71397000	Weak transcription	Adipose Nuclei	Adipose
35	chr14:71393800-71397000	Weak transcription	Fetal Brain Female	brain
36	chr14:71393800-71400000	Weak transcription	Primary T cells from cord blood	blood
37	chr14:71393800-71401200	Weak transcription	Left Ventricle	heart
38	chr14:71393800-71401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:71393800-71409000	Weak transcription	Primary B cells from cord blood	blood
40	chr14:71394800-71398200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:71394800-71398400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:71395000-71397600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr14:71395000-71398400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr14:71395000-71398600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:71395200-71398200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr14:71395400-71397000	Enhancers	Brain Anterior Caudate	brain
47	chr14:71395400-71397800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:71395400-71398400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:71395600-71397200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:71395800-71397000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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