Variant report

Variant	nsv73505
Chromosome Location	chr14:34834461-34834463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34827197..34829438-chr14:34832825..34835803,3	MCF-7	breast:
2	chr14:34833069..34836111-chr14:35024176..35025897,3	K562	blood:
3	chr14:34830868..34842924-chr14:34928180..34935370,25	MCF-7	breast:
4	chr14:34832361..34834926-chr14:35022070..35024104,2	K562	blood:
5	chr14:34831090..34836007-chr14:34929679..34932517,6	MCF-7	breast:
6	chr14:34834264..34835188-chr14:34967046..34968623,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129521	chromatin interactions
ENSG00000165389	chromatin interactions
ENSG00000206588	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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	rs35881258	chr14:34834461-34834462	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	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
Breast cancer	21364760	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34826000-34837200	Weak transcription	Pancreas	Pancrea
2	chr14:34829400-34834800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:34829400-34837200	Weak transcription	HMEC	breast
4	chr14:34829400-34838600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:34830000-34835400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:34831000-34837200	Weak transcription	Adipose Nuclei	Adipose
7	chr14:34831400-34834800	Weak transcription	Brain Anterior Caudate	brain
8	chr14:34831400-34834800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:34831400-34837200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:34831400-34838000	Weak transcription	Esophagus	oesophagus
11	chr14:34831400-34839400	Weak transcription	Lung	lung
12	chr14:34831600-34834600	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:34831600-34834800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:34831600-34838200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:34831600-34840000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:34832600-34837000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:34832800-34834800	Weak transcription	Osteobl	bone
18	chr14:34833400-34834600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:34833400-34835400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr14:34833400-34837000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:34833400-34838000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:34833400-34838000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:34833600-34834800	Weak transcription	Hela-S3	cervix
24	chr14:34833600-34834800	Weak transcription	NH-A	brain
25	chr14:34833600-34837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:34833800-34837200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:34834400-34834600	Enhancers	HepG2	liver
28	chr14:34834400-34837000	Weak transcription	NHEK	skin
29	chr14:34834400-34837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:34834400-34837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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