Variant report

Variant	nsv527955
Chromosome Location	chr5:114727949-114728073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3752048	chr5:114727949-114727950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539682248	chr5:114727953-114727954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79783374	chr5:114727971-114727972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79466339	chr5:114727974-114727975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531827508	chr5:114728025-114728026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3752047	chr5:114728028-114728029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565265996	chr5:114728032-114728033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184828619	chr5:114728044-114728045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546203361	chr5:114728048-114728049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373442753	chr5:114728053-114728054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs269537	chr5:114728073-114728074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114725400-114728200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:114725400-114728200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:114725400-114728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:114725800-114728200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:114725800-114728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:114725800-114729000	Weak transcription	Left Ventricle	heart
7	chr5:114725800-114729000	Weak transcription	Right Atrium	heart
8	chr5:114725800-114729000	Weak transcription	Right Ventricle	heart
9	chr5:114725800-114729000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:114725800-114730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:114726000-114728400	Weak transcription	NHLF	lung
12	chr5:114726000-114728600	Weak transcription	Fetal Lung	lung
13	chr5:114726200-114729600	Weak transcription	Gastric	stomach
14	chr5:114727200-114728200	Enhancers	Liver	Liver
15	chr5:114727600-114730000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:114727800-114728200	Enhancers	NHDF-Ad	bronchial
17	chr5:114727800-114729200	Enhancers	Fetal Muscle Leg	muscle
18	chr5:114727800-114729200	Weak transcription	Pancreas	Pancrea
19	chr5:114727800-114729400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:114728000-114728400	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links