Variant report

Variant	rs16930045
Chromosome Location	chr8:63905227-63905228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10504360	0.95[ASN][1000 genomes]
rs10504361	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957263	0.91[AFR][1000 genomes]
rs10957264	0.91[AFR][1000 genomes]
rs11545078	0.89[GIH][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985884	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985904	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989852	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11992253	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993022	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994355	0.89[AFR][1000 genomes]
rs16930047	0.92[AFR][1000 genomes]
rs16930051	0.92[AFR][1000 genomes]
rs16930060	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930066	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16930072	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17192653	0.95[ASN][1000 genomes]
rs17194931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1902232	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1902233	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1902234	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902235	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124294	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168316	0.87[AFR][1000 genomes]
rs2168317	0.89[AFR][1000 genomes]
rs2353363	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2353364	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2883148	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3780129	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4395892	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410897	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419801	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739034	0.89[AFR][1000 genomes]
rs55800505	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56034470	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56213868	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339102	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57069084	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57776226	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58554293	0.82[ASN][1000 genomes]
rs58942648	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59169978	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60751452	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60889737	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60897253	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61326296	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518338	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61629446	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508088	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508107	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508108	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508109	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508110	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508111	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508113	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508118	0.92[AFR][1000 genomes]
rs62508123	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508154	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508155	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508156	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62508157	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508158	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510060	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510061	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510062	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510063	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510064	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472063	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs66790008	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983219	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983643	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983864	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983896	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997520	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004087	0.90[JPT][hapmap]
rs7015120	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7015302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656550	0.95[ASN][1000 genomes]
rs72658344	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72658396	0.95[ASN][1000 genomes]
rs72658400	0.95[ASN][1000 genomes]
rs72659813	0.93[ASN][1000 genomes]
rs7834301	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16930045	GGH	Cis_1M	lymphoblastoid	RTeQTL
rs16930045	GGH	cis	Skin Sun Exposed Lower leg	GTEx
rs16930045	GGH	cis	Adipose Subcutaneous	GTEx
rs16930045	GGH	cis	Artery Tibial	GTEx
rs16930045	GGH	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63905000-63905600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links