Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10127608	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1051394	0.81[AFR][1000 genomes]
rs11165021	0.83[AFR][1000 genomes]
rs11165022	0.83[AFR][1000 genomes]
rs11165023	0.83[AFR][1000 genomes]
rs11165025	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11165026	0.81[AFR][1000 genomes]
rs2143992	0.81[AFR][1000 genomes]
rs4847263	0.83[AFR][1000 genomes]
rs4847264	0.80[AFR][1000 genomes]
rs6664876	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6684054	0.83[AFR][1000 genomes]
rs6697189	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7364663	0.82[ASN][1000 genomes]
rs7367601	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7513786	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7514828	0.84[AFR][1000 genomes]
rs7517632	0.83[AFR][1000 genomes]
rs7556047	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7556107	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6700244	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs6700244	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs6700244	RP11-488P3.1	cis	lung	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:94322600-94334200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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