Variant report

Variant	rs4599520
Chromosome Location	chr5:92486966-92486967
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11958890	0.81[ASN][1000 genomes]
rs12513458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12513551	0.81[EUR][1000 genomes]
rs12522681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12522702	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1603407	0.81[ASN][1000 genomes]
rs17082917	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17360518	0.92[ASN][1000 genomes]
rs17360811	0.92[ASN][1000 genomes]
rs4308464	0.96[ASN][1000 genomes]
rs4312865	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4342312	0.97[ASN][1000 genomes]
rs4401560	0.81[EUR][1000 genomes]
rs4493655	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55971857	0.93[ASN][1000 genomes]
rs56854549	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57921649	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59273613	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66856683	0.81[AMR][1000 genomes]
rs67395049	0.81[EUR][1000 genomes]
rs67565700	0.81[AMR][1000 genomes]
rs67832642	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67895058	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6866281	0.83[CHB][hapmap]
rs7718530	0.97[ASN][1000 genomes]
rs9314229	0.82[CHB][hapmap]
rs9314230	0.82[CHB][hapmap]
rs998492	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92481200-92489200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:92485800-92487600	Enhancers	HSMMtube	muscle
3	chr5:92486000-92487400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:92486000-92487400	Enhancers	Osteobl	bone
5	chr5:92486000-92487800	Enhancers	HUVEC	blood vessel
6	chr5:92486000-92488400	Enhancers	NHDF-Ad	bronchial
7	chr5:92486200-92487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:92486200-92487600	Enhancers	HMEC	breast
9	chr5:92486200-92487600	Enhancers	NHLF	lung
10	chr5:92486200-92487800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:92486200-92487800	Enhancers	NH-A	brain
12	chr5:92486200-92488400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:92486200-92488400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:92486400-92487200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:92486400-92487400	Enhancers	NHEK	skin
16	chr5:92486400-92487800	Enhancers	A549	lung
17	chr5:92486400-92488400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:92486600-92487600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:92486600-92488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:92486600-92496400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:92486600-92498200	Weak transcription	Aorta	Aorta
22	chr5:92486800-92487200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:92486800-92487400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:92486800-92487600	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links