Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:171742868..171745559-chr1:171748625..171751508,3	MCF-7	breast:
2	chr1:171738793..171741623-chr1:171744714..171746793,2	K562	blood:
3	chr1:171742778..171746827-chr1:171748449..171752347,7	K562	blood:

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction

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

rs_ID	r²[population]
rs10489250	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12021915	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12022661	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12024194	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12024335	0.82[EUR][1000 genomes]
rs12028096	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12034114	0.89[EUR][1000 genomes]
rs12035719	0.83[CEU][hapmap]
rs1490185	0.83[CEU][hapmap]
rs16843227	0.91[EUR][1000 genomes]
rs2421910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes]
rs57300412	0.85[EUR][1000 genomes]
rs61413126	0.89[EUR][1000 genomes]
rs6659266	0.89[EUR][1000 genomes]
rs6665614	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72717895	0.89[EUR][1000 genomes]
rs72717900	0.89[EUR][1000 genomes]
rs72719512	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7543786	1.00[CEU][hapmap]
rs7554793	0.89[CHB][hapmap]

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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12036980	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:171744400-171745400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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