Variant report

Variant	esv1374716
Chromosome Location	chr14:35546698-35546699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35542856..35545379-chr14:35545884..35547837,2	K562	blood:
2	chr14:35546558..35548524-chr14:35548647..35551587,2	K562	blood:
3	chr14:35524936..35527808-chr14:35546522..35548065,2	MCF-7	breast:
4	chr14:35513942..35517116-chr14:35546230..35550128,3	MCF-7	breast:
5	chr14:35545880..35548959-chr14:35590371..35593257,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100890	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000258790	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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	rs571706824	chr14:35546699-35546700	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
2	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
3	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
6	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:35518000-35547400	Weak transcription	GM12878-XiMat	blood
8	chr14:35520200-35550800	Weak transcription	NHLF	lung
9	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:35526600-35547200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:35526600-35552400	Weak transcription	Brain Substantia Nigra	brain
12	chr14:35528200-35547400	Weak transcription	Fetal Thymus	thymus
13	chr14:35528200-35552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:35528200-35559400	Weak transcription	Colonic Mucosa	Colon
15	chr14:35528600-35552400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:35528600-35552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:35528800-35563200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:35529000-35552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:35529400-35555800	Weak transcription	Aorta	Aorta
20	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
21	chr14:35530400-35550600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:35530600-35547200	Weak transcription	HMEC	breast
23	chr14:35530600-35548000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:35530600-35550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:35530600-35552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:35530600-35563600	Weak transcription	Small Intestine	intestine
27	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
28	chr14:35530800-35552000	Weak transcription	Hela-S3	cervix
29	chr14:35531400-35547400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:35531400-35550800	Weak transcription	HUVEC	blood vessel
31	chr14:35531400-35552600	Weak transcription	Pancreas	Pancrea
32	chr14:35531400-35563400	Weak transcription	Gastric	stomach
33	chr14:35538200-35547000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:35538200-35547000	Weak transcription	HSMMtube	muscle
35	chr14:35538200-35547400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:35538200-35581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:35538400-35546800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:35538400-35547000	Weak transcription	Fetal Kidney	kidney
39	chr14:35538400-35547000	Weak transcription	NHEK	skin
40	chr14:35538400-35547400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr14:35538400-35547400	Weak transcription	Ovary	ovary
42	chr14:35538400-35548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:35538400-35550800	Weak transcription	Dnd41	blood
44	chr14:35538400-35552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:35538400-35559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:35539000-35552400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
48	chr14:35542200-35547200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:35542200-35547400	Weak transcription	Adipose Nuclei	Adipose
50	chr14:35542400-35554000	Weak transcription	Psoas Muscle	Psoas

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