Variant report

Variant	esv3434831
Chromosome Location	chr14:72006971-72007475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142690844	chr14:72006971-72006972	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543532533	chr14:72007035-72007036	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561331354	chr14:72007044-72007045	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191059610	chr14:72007055-72007056	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182462089	chr14:72007076-72007077	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188328660	chr14:72007105-72007106	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559176858	chr14:72007224-72007225	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191828653	chr14:72007235-72007236	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530871110	chr14:72007247-72007248	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs371348256	chr14:72007386-72007387	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs113289185	chr14:72007401-72007402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372016960	chr14:72007404-72007405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151037799	chr14:72007425-72007426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3784066	chr14:72007454-72007455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71976800-72008400	Weak transcription	Thymus	Thymus
2	chr14:71978400-72009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:71978400-72014800	Weak transcription	HMEC	breast
4	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
5	chr14:71981400-72021400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:71981600-72008400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:71997000-72009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:71997400-72008400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:71997800-72017600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:71998400-72008600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:72001400-72009800	Enhancers	Fetal Heart	heart
12	chr14:72002400-72009200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:72002600-72007600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:72002800-72008600	Enhancers	Fetal Stomach	stomach
15	chr14:72003000-72017800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:72003400-72007600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:72003600-72008400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:72003800-72009400	Weak transcription	HSMM	muscle
19	chr14:72004000-72007000	Enhancers	K562	blood
20	chr14:72004400-72007600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:72004600-72007400	Enhancers	NHLF	lung
22	chr14:72004600-72007800	Enhancers	NHDF-Ad	bronchial
23	chr14:72005000-72007000	Enhancers	Colon Smooth Muscle	Colon
24	chr14:72005000-72007400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:72005200-72007200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:72005600-72007200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr14:72005600-72007200	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:72005600-72007400	Enhancers	Brain Germinal Matrix	brain
29	chr14:72005600-72007400	Enhancers	HUVEC	blood vessel
30	chr14:72005600-72007600	Enhancers	Primary T cells from cord blood	blood
31	chr14:72005800-72007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:72005800-72007000	Flanking Active TSS	Fetal Lung	lung
33	chr14:72005800-72007200	Enhancers	Liver	Liver
34	chr14:72005800-72007400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:72005800-72007600	Enhancers	Adipose Nuclei	Adipose
36	chr14:72005800-72008400	Enhancers	Fetal Muscle Leg	muscle
37	chr14:72005800-72008600	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:72006000-72007200	Enhancers	Primary B cells from cord blood	blood
39	chr14:72006000-72007200	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:72006200-72007000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr14:72006200-72007000	Enhancers	Stomach Mucosa	stomach
42	chr14:72006200-72007200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:72006200-72008400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:72006400-72007000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr14:72006400-72007000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr14:72006400-72007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:72006400-72007000	Enhancers	Aorta	Aorta
48	chr14:72006400-72007000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr14:72006400-72007000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr14:72006400-72007200	Flanking Active TSS	Brain Anterior Caudate	brain

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