Variant report

Variant	rs4739033
Chromosome Location	chr8:63899496-63899497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1031553	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10957259	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957262	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957263	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957264	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957267	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11994355	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12541798	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12541873	0.84[EUR][1000 genomes]
rs12544234	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12547830	0.81[ASN][1000 genomes]
rs12548933	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12681818	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12681874	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes]
rs16918945	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16918948	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16930047	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16930051	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16930062	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16930070	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2124293	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2168316	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168317	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2353366	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4581048	0.85[EUR][1000 genomes]
rs4737623	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4739034	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4739039	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4739040	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4739041	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57646286	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57863684	0.84[EUR][1000 genomes]
rs59202889	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60408006	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60782904	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60800990	0.84[EUR][1000 genomes]
rs60865954	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62508118	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62508120	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62508122	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62510065	0.85[EUR][1000 genomes]
rs6984196	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7004312	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7017200	0.83[AMR][1000 genomes];0.99[EUR][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
rs4739033	GGH	cis	Adipose Subcutaneous	GTEx
rs4739033	GGH	cis	Artery Tibial	GTEx
rs4739033	GGH	cis	Nerve Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63896400-63901000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:63896600-63900600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:63897800-63899800	Weak transcription	Esophagus	oesophagus

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