Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:171710037..171714996-chr1:171734843..171738629,6	MCF-7	breast:
2	chr1:171710045..171712872-chr1:171732812..171737029,6	MCF-7	breast:
3	chr1:171734034..171736178-chr1:171746102..171748315,3	K562	blood:
4	chr1:171734176..171737844-chr1:171748206..171752284,5	K562	blood:
5	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction
ENSG00000117533	Chromatin interaction

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

rs_ID	r²[population]
rs10798634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798636	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913644	0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs12028128	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034454	0.84[EUR][1000 genomes]
rs12566700	0.87[CHB][hapmap]
rs2232812	0.84[EUR][1000 genomes]
rs2232816	0.84[EUR][1000 genomes]
rs2232818	0.84[EUR][1000 genomes]
rs2232826	0.83[EUR][1000 genomes]
rs2294717	0.84[EUR][1000 genomes]
rs3753538	0.84[EUR][1000 genomes]
rs56178029	0.84[EUR][1000 genomes]
rs60956160	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692136	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543608	0.84[EUR][1000 genomes]
rs7551037	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7860	0.83[EUR][1000 genomes]
rs909958	0.84[EUR][1000 genomes]
rs941942	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.88[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	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
rs7542116	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171735200-171738600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:171735400-171735800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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