Variant report

Variant	rs7004312
Chromosome Location	chr8:63919102-63919103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63917789..63919405-chr8:63920362..63922527,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1031553	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957259	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10957262	0.97[EUR][1000 genomes]
rs10957263	0.99[EUR][1000 genomes]
rs10957264	0.99[EUR][1000 genomes]
rs10957267	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11994355	0.97[EUR][1000 genomes]
rs12541798	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541873	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544234	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681874	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16918945	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16918948	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16930047	0.99[EUR][1000 genomes]
rs16930051	0.96[EUR][1000 genomes]
rs16930062	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16930070	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2124293	0.99[EUR][1000 genomes]
rs2168316	0.99[EUR][1000 genomes]
rs2168317	0.99[EUR][1000 genomes]
rs2353366	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3780126	0.83[YRI][hapmap]
rs4534127	0.93[ASN][1000 genomes]
rs4581048	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737623	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4739033	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4739034	0.99[EUR][1000 genomes]
rs4739039	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4739040	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4739041	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57646286	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57863684	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59202889	0.99[EUR][1000 genomes]
rs60408006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60782904	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60800990	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60865954	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62508118	0.99[EUR][1000 genomes]
rs62508120	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62508122	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62510065	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984196	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017200	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7004312	GGH	cis	Adipose Subcutaneous	GTEx
rs7004312	GGH	cis	Artery Tibial	GTEx
rs7004312	GGH	cis	Nerve Tibial	GTEx
rs7004312	GGH	cis	lung	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63906800-63926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:63915600-63919600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:63915600-63922200	Weak transcription	Fetal Kidney	kidney
4	chr8:63915800-63920200	Weak transcription	HepG2	liver
5	chr8:63916800-63919800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:63916800-63919800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:63916800-63920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:63916800-63920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:63919000-63919200	Enhancers	Thymus	Thymus

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