Variant report

Variant	esv3433816
Chromosome Location	chr14:78043490-78043981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191353841	chr14:78043504-78043505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544875092	chr14:78043511-78043512	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560983941	chr14:78043541-78043542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529646316	chr14:78043608-78043609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546706758	chr14:78043616-78043617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559966757	chr14:78043686-78043687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145134051	chr14:78043838-78043839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551968046	chr14:78043873-78043874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568669432	chr14:78043921-78043922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4903612	chr14:78043929-78043930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544457606	chr14:78043965-78043966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:78009800-78050800	Weak transcription	Psoas Muscle	Psoas
4	chr14:78011200-78045800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:78013200-78066200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:78016400-78061000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:78018600-78044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:78018800-78047000	Weak transcription	Placenta	Placenta
9	chr14:78021600-78047000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:78021800-78061000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:78021800-78068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:78021800-78071600	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:78022000-78060800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:78022400-78047200	Weak transcription	Brain Germinal Matrix	brain
15	chr14:78022400-78049000	Weak transcription	Right Ventricle	heart
16	chr14:78022400-78055000	Weak transcription	Colonic Mucosa	Colon
17	chr14:78024000-78046400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:78024200-78046800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:78024200-78047200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:78026200-78045600	Weak transcription	Fetal Lung	lung
21	chr14:78028600-78047200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:78029800-78047600	Weak transcription	K562	blood
23	chr14:78030200-78056800	Weak transcription	HMEC	breast
24	chr14:78033600-78044600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:78034800-78046000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr14:78036000-78046800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:78036200-78044000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr14:78037600-78049000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:78038200-78044400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:78038200-78045400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:78038400-78045800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:78038400-78045800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:78038600-78045600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:78039200-78043800	Strong transcription	Primary B cells from cord blood	blood
35	chr14:78039400-78044000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:78039400-78044400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:78039800-78044600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:78040000-78043800	Strong transcription	Primary T cells from cord blood	blood
39	chr14:78040000-78043800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:78040000-78044600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:78040000-78045200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:78040200-78043800	Strong transcription	Fetal Intestine Large	intestine
43	chr14:78040200-78043800	Strong transcription	GM12878-XiMat	blood
44	chr14:78040200-78044800	Strong transcription	NHEK	skin
45	chr14:78040200-78045600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:78040400-78044000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:78040400-78051800	Weak transcription	HepG2	liver
48	chr14:78040600-78049000	Weak transcription	Ovary	ovary
49	chr14:78040800-78047000	Weak transcription	Stomach Mucosa	stomach
50	chr14:78041000-78047000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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