Variant report

Variant	esv3416276
Chromosome Location	chr14:63982193-63982616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 62 )

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	rs534507711	chr14:63982221-63982222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547035392	chr14:63982225-63982226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532351126	chr14:63982246-63982247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200790475	chr14:63982254-63982255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557775265	chr14:63982279-63982280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113215855	chr14:63982325-63982326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535912687	chr14:63982331-63982332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577717717	chr14:63982332-63982333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142938432	chr14:63982362-63982363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1255755	chr14:63982364-63982365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568925217	chr14:63982389-63982390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538445475	chr14:63982404-63982405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375079609	chr14:63982471-63982472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540054530	chr14:63982528-63982529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63951000-64003200	Weak transcription	Ovary	ovary
2	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:63960200-63983200	Weak transcription	NH-A	brain
5	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
6	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:63962800-63990600	Weak transcription	Right Ventricle	heart
9	chr14:63964000-63990400	Weak transcription	Fetal Kidney	kidney
10	chr14:63966600-63983200	Weak transcription	Adipose Nuclei	Adipose
11	chr14:63966800-63983200	Weak transcription	Osteobl	bone
12	chr14:63967600-63986600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:63967600-63996400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:63969200-63983200	Weak transcription	Left Ventricle	heart
15	chr14:63969200-63984800	Weak transcription	Lung	lung
16	chr14:63969200-63991200	Weak transcription	Right Atrium	heart
17	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
18	chr14:63970800-63990600	Weak transcription	Brain Anterior Caudate	brain
19	chr14:63971200-64000800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:63972000-64000200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:63972200-64003400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:63972400-63983200	Weak transcription	Hela-S3	cervix
23	chr14:63972400-64002800	Weak transcription	HMEC	breast
24	chr14:63972600-63987000	Weak transcription	NHEK	skin
25	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
26	chr14:63972800-63983000	Weak transcription	A549	lung
27	chr14:63972800-63983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:63974000-63987000	Weak transcription	Liver	Liver
29	chr14:63974000-63989200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:63974000-63990600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
32	chr14:63975000-63983200	Weak transcription	Spleen	Spleen
33	chr14:63975000-63990600	Weak transcription	Brain Angular Gyrus	brain
34	chr14:63975000-63991200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:63975200-64000600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:63975600-64005800	Weak transcription	K562	blood
38	chr14:63976200-63982600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:63977200-63984800	Weak transcription	Fetal Intestine Small	intestine
40	chr14:63977200-64002400	Weak transcription	HSMM	muscle
41	chr14:63977400-63989200	Weak transcription	Fetal Intestine Large	intestine
42	chr14:63978000-63986800	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:63978000-63991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:63978200-63986000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:63978200-63986200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:63978200-63987000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:63978200-63987000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:63978200-63987000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:63978200-63987200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:63978200-63987200	Weak transcription	Primary B cells from peripheral blood	blood

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