Variant report

Variant	esv1670167
Chromosome Location	chr14:55922408-55922409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs35068311	chr14:55922408-55922409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	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	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:55921400-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:55921400-55925400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:55921600-55925000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:55921600-55925400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:55921600-55925600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:55921600-55925800	Weak transcription	HSMMtube	muscle
8	chr14:55921800-55925000	Weak transcription	GM12878-XiMat	blood
9	chr14:55921800-55925000	Weak transcription	HSMM	muscle
10	chr14:55921800-55925000	Weak transcription	NHDF-Ad	bronchial
11	chr14:55921800-55925200	Weak transcription	A549	lung
12	chr14:55921800-55925400	Weak transcription	NH-A	brain
13	chr14:55921800-55925400	Weak transcription	Osteobl	bone
14	chr14:55921800-55925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:55921800-55925600	Weak transcription	Right Atrium	heart
16	chr14:55921800-55925800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:55921800-55925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:55921800-55925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:55921800-55930000	Weak transcription	NHLF	lung
20	chr14:55921800-55933800	Weak transcription	Gastric	stomach
21	chr14:55922000-55924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:55922000-55925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:55922000-55925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:55922000-55925000	Weak transcription	HUVEC	blood vessel
25	chr14:55922000-55925800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:55922200-55924000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:55922200-55924200	Weak transcription	Fetal Heart	heart
28	chr14:55922200-55924600	Weak transcription	NHEK	skin
29	chr14:55922200-55925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:55922200-55925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:55922200-55929800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:55922400-55924000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:55922400-55924400	Weak transcription	Hela-S3	cervix
34	chr14:55922400-55925000	Weak transcription	HMEC	breast
35	chr14:55922400-55925200	Weak transcription	Stomach Mucosa	stomach

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