Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:105172416..105175180-chr12:105175349..105177504,2	K562	blood:
2	chr12:105173249..105175093-chr12:105175948..105178622,2	MCF-7	breast:
3	chr12:105166605..105169124-chr12:105175430..105176938,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507186	0.88[CHB][hapmap]
rs10507187	0.88[CHB][hapmap]
rs10507188	0.88[CHB][hapmap]
rs11112193	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112194	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112195	1.00[EUR][1000 genomes]
rs11112196	1.00[EUR][1000 genomes]
rs11112203	1.00[EUR][1000 genomes]
rs12300375	1.00[EUR][1000 genomes]
rs12309588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs12310726	1.00[CEU][hapmap]
rs17036293	1.00[CEU][hapmap]
rs17036439	0.86[CHB][hapmap]
rs17036463	0.88[CHB][hapmap]
rs17036494	0.88[CHB][hapmap]
rs17036505	0.88[CHB][hapmap]
rs17036509	0.88[CHB][hapmap]
rs17036534	0.88[CHB][hapmap]
rs17036542	0.88[CHB][hapmap]
rs17036549	0.88[CHB][hapmap]
rs17041531	0.88[CHB][hapmap]
rs3812795	0.88[CHB][hapmap]
rs3816923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4077312	0.88[CHB][hapmap]
rs57066817	1.00[EUR][1000 genomes]
rs58206824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61046283	1.00[EUR][1000 genomes]
rs7308434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960343	1.00[EUR][1000 genomes]
rs7970504	0.86[CHB][hapmap]
rs7971575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7974895	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105174600-105182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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