Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10911840	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1285114	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285115	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285116	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285117	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285119	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1293986	0.92[EUR][1000 genomes]
rs1293993	0.82[AFR][1000 genomes]
rs1475100	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1998347	0.91[EUR][1000 genomes]
rs4651306	0.96[AFR][1000 genomes]
rs585738	0.83[CHD][hapmap]
rs611643	0.83[CHD][hapmap]
rs622480	0.83[CHD][hapmap]
rs632800	0.83[CHD][hapmap]
rs633606	0.83[CHD][hapmap]
rs639851	0.83[CHD][hapmap]
rs647696	0.85[JPT][hapmap]
rs652052	0.83[CHD][hapmap]
rs653791	0.83[CHD][hapmap]
rs654335	0.83[CHD][hapmap]
rs655434	0.83[CHD][hapmap]
rs664058	0.83[CHD][hapmap]
rs6671112	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs668866	0.83[CHD][hapmap]
rs677889	0.83[CHD][hapmap]
rs716288	0.96[AFR][1000 genomes]
rs857582	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs857584	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs704308	RNF2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186242200-186243000	Enhancers	Primary T cells from cord blood	blood
2	chr1:186242200-186244400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:186242600-186243600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:186242600-186243800	Weak transcription	Fetal Thymus	thymus

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