Variant report

Variant	nsv82079
Chromosome Location	chr14:31442480-31442480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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	rs398024688	chr14:31442480-31442481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31425600-31442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:31425600-31443000	Weak transcription	HUVEC	blood vessel
4	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:31436400-31442600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:31436400-31442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:31436400-31443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:31436400-31444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:31436400-31444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:31436400-31457200	Weak transcription	HSMM	muscle
19	chr14:31436400-31457800	Weak transcription	NHEK	skin
20	chr14:31436800-31444200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:31437400-31443000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:31439000-31444400	Enhancers	HepG2	liver
24	chr14:31439000-31445800	Enhancers	Colon Smooth Muscle	Colon
25	chr14:31439600-31444600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:31439800-31443400	Weak transcription	GM12878-XiMat	blood
27	chr14:31440000-31442800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:31440200-31442800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:31440200-31444000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:31440400-31442800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:31440400-31442800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:31440400-31444200	Weak transcription	Psoas Muscle	Psoas
34	chr14:31440400-31455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
36	chr14:31441000-31443000	Enhancers	Stomach Mucosa	stomach
37	chr14:31441000-31443200	Weak transcription	Brain Angular Gyrus	brain
38	chr14:31441000-31443200	Weak transcription	Brain Substantia Nigra	brain
39	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:31441200-31457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:31441200-31457400	Weak transcription	NH-A	brain
42	chr14:31441400-31443000	Enhancers	Small Intestine	intestine
43	chr14:31441600-31442800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:31441600-31442800	Weak transcription	Brain Anterior Caudate	brain
45	chr14:31441600-31442800	Weak transcription	A549	lung
46	chr14:31441600-31443000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:31441600-31445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:31441600-31449800	Weak transcription	K562	blood
49	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:31441800-31442600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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