Variant report

Variant	esv1565994
Chromosome Location	chr14:64320881-64320882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64319483..64322302-chr14:64328481..64332813,5	MCF-7	breast:
2	chr14:64319797..64321605-chr14:64466270..64468504,2	MCF-7	breast:
3	chr14:64319166..64320923-chr14:64328806..64331982,4	MCF-7	breast:
4	chr14:64319794..64321904-chr14:64361235..64363695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35131482	chr14:64320881-64320882	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71123805	chr14:64320882-64320883	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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
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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64318800-64321000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:64318800-64321200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:64318800-64321400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:64318800-64321800	Active TSS	Fetal Kidney	kidney
5	chr14:64318800-64322600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:64319000-64321000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:64319000-64321000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:64319000-64321000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:64319000-64321000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:64319000-64321000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:64319000-64321000	Active TSS	Brain Anterior Caudate	brain
12	chr14:64319000-64321000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:64319000-64321000	Active TSS	Colon Smooth Muscle	Colon
14	chr14:64319000-64321000	Active TSS	Duodenum Mucosa	Duodenum
15	chr14:64319000-64321000	Active TSS	Fetal Intestine Small	intestine
16	chr14:64319000-64321000	Active TSS	Fetal Muscle Trunk	muscle
17	chr14:64319000-64321200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:64319000-64321200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:64319000-64321200	Active TSS	Brain Angular Gyrus	brain
20	chr14:64319000-64321200	Active TSS	Fetal Intestine Large	intestine
21	chr14:64319000-64321200	Active TSS	Pancreas	Pancrea
22	chr14:64319000-64321200	Active TSS	A549	lung
23	chr14:64319000-64321400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:64319000-64321400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:64319000-64321400	Active TSS	Right Ventricle	heart
26	chr14:64319000-64321800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:64319000-64321800	Active TSS	Brain Germinal Matrix	brain
28	chr14:64319000-64322200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr14:64319000-64322200	Active TSS	Fetal Brain Female	brain
30	chr14:64319200-64321000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr14:64319200-64321000	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:64319200-64321000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr14:64319200-64321000	Active TSS	Thymus	Thymus
34	chr14:64319200-64321000	Active TSS	HSMM	muscle
35	chr14:64319200-64321200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:64319200-64321200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:64319200-64321200	Active TSS	Gastric	stomach
38	chr14:64319200-64321400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:64319200-64321400	Active TSS	Aorta	Aorta
40	chr14:64319200-64321400	Active TSS	Left Ventricle	heart
41	chr14:64319200-64321400	Active TSS	Lung	lung
42	chr14:64319200-64321400	Active TSS	Ovary	ovary
43	chr14:64319200-64321400	Active TSS	NHLF	lung
44	chr14:64319200-64321600	Active TSS	NHDF-Ad	bronchial
45	chr14:64319400-64321000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:64319400-64321000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr14:64319400-64321000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:64319400-64321000	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr14:64319400-64321000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:64319400-64321000	Active TSS	Brain Substantia Nigra	brain

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