Variant report

Variant	rs16930051
Chromosome Location	chr8:63905261-63905262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1031553	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10504361	0.82[AFR][1000 genomes]
rs10957259	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957267	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11985884	0.84[AFR][1000 genomes]
rs11985904	0.82[AFR][1000 genomes]
rs11989852	0.87[AFR][1000 genomes]
rs11992253	0.84[AFR][1000 genomes]
rs11993022	0.84[AFR][1000 genomes]
rs11994355	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12541798	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12541873	0.82[EUR][1000 genomes]
rs12544234	0.96[EUR][1000 genomes]
rs12547830	0.83[ASN][1000 genomes]
rs12548933	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12681818	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12681874	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16918945	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16918948	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930045	0.92[AFR][1000 genomes]
rs16930047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930062	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16930070	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1902232	0.84[AFR][1000 genomes]
rs1902234	0.81[AFR][1000 genomes]
rs1902235	0.81[AFR][1000 genomes]
rs2124293	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2124294	0.87[AFR][1000 genomes]
rs2168316	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2353363	0.81[AFR][1000 genomes]
rs2353364	0.81[AFR][1000 genomes]
rs2353366	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2883148	0.84[AFR][1000 genomes]
rs4410897	0.84[AFR][1000 genomes]
rs4419801	0.85[AFR][1000 genomes]
rs4581048	0.82[EUR][1000 genomes]
rs4737623	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739033	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4739034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739039	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4739040	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4739041	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56034470	0.84[AFR][1000 genomes]
rs56213868	0.84[AFR][1000 genomes]
rs56339102	0.81[AFR][1000 genomes]
rs57069084	0.82[AFR][1000 genomes]
rs57646286	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57863684	0.82[EUR][1000 genomes]
rs58942648	0.84[AFR][1000 genomes]
rs59202889	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60408006	0.96[EUR][1000 genomes]
rs60751452	0.84[AFR][1000 genomes]
rs60782904	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60800990	0.82[EUR][1000 genomes]
rs60865954	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60897253	0.84[AFR][1000 genomes]
rs61326296	0.82[AFR][1000 genomes]
rs62508107	0.85[AFR][1000 genomes]
rs62508109	0.84[AFR][1000 genomes]
rs62508110	0.84[AFR][1000 genomes]
rs62508111	0.84[AFR][1000 genomes]
rs62508113	0.85[AFR][1000 genomes]
rs62508118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508120	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62508122	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62510065	0.82[EUR][1000 genomes]
rs66790008	0.84[AFR][1000 genomes]
rs6983219	0.84[AFR][1000 genomes]
rs6983643	0.84[AFR][1000 genomes]
rs6983864	0.87[AFR][1000 genomes]
rs6983896	0.84[AFR][1000 genomes]
rs6984196	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7004312	0.96[EUR][1000 genomes]
rs7015120	0.81[AFR][1000 genomes]
rs7015302	0.84[AFR][1000 genomes]
rs7017200	0.96[EUR][1000 genomes];0.82[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16930051	GGH	cis	Adipose Subcutaneous	GTEx
rs16930051	GGH	cis	Artery Tibial	GTEx
rs16930051	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

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