Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1026514	0.88[ASN][1000 genomes]
rs10779436	0.84[ASN][1000 genomes]
rs10863615	0.84[ASN][1000 genomes]
rs10863617	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10863629	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863632	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12043747	0.84[ASN][1000 genomes]
rs12134883	1.00[JPT][hapmap]
rs1380253	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1459229	0.84[ASN][1000 genomes]
rs1599083	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1599091	0.92[ASN][1000 genomes]
rs1993631	0.84[ASN][1000 genomes]
rs4846346	0.84[ASN][1000 genomes]
rs4846716	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5012024	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663387	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6688088	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6699330	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9659064	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9662092	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9728318	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1858566	TGFB2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221688400-221691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221688600-221691200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:221689600-221690800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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