Variant report

Variant	nsv823205
Chromosome Location	chr5:124477336-124477983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142347292	chr5:124477345-124477346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35553811	chr5:124477366-124477367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1550358	chr5:124477376-124477377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs569152481	chr5:124477397-124477398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146130253	chr5:124477399-124477400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1550357	chr5:124477401-124477402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs138978229	chr5:124477414-124477415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375488346	chr5:124477417-124477418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372036551	chr5:124477427-124477428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553481420	chr5:124477484-124477485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577985279	chr5:124477531-124477532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116437718	chr5:124477560-124477561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548625314	chr5:124477582-124477583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1550356	chr5:124477587-124477588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11747137	chr5:124477591-124477592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1550355	chr5:124477601-124477602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551011472	chr5:124477609-124477610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115663517	chr5:124477649-124477650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573082735	chr5:124477737-124477738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539976075	chr5:124477750-124477751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28662294	chr5:124477820-124477821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13188430	chr5:124477850-124477851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7449435	chr5:124477867-124477868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555963432	chr5:124477892-124477893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530040494	chr5:124477903-124477904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548500168	chr5:124477922-124477923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373385323	chr5:124477923-124477924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567013375	chr5:124477924-124477925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12188573	chr5:124477948-124477949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555503146	chr5:124477962-124477963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124471000-124478400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124471400-124484600	Weak transcription	HSMM	muscle
3	chr5:124476000-124477400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:124476000-124477400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:124476000-124477400	Enhancers	Fetal Intestine Small	intestine
6	chr5:124476000-124478800	Enhancers	NHDF-Ad	bronchial
7	chr5:124476200-124477400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:124476200-124477400	Enhancers	Adipose Nuclei	Adipose
9	chr5:124476600-124477400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:124477000-124479200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:124477200-124488200	Weak transcription	HUVEC	blood vessel
12	chr5:124477400-124477600	Enhancers	Fetal Muscle Leg	muscle
13	chr5:124477400-124478400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:124477400-124484600	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links