Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:171742868..171745559-chr1:171748625..171751508,3	MCF-7	breast:
2	chr1:171738743..171740462-chr1:171742324..171745005,2	K562	blood:
3	chr1:171710019..171713750-chr1:171741617..171744862,3	K562	blood:
4	chr1:171742778..171746827-chr1:171748449..171752347,7	K562	blood:

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction
ENSG00000117533	Chromatin interaction

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

rs_ID	r²[population]
rs10489253	0.83[YRI][hapmap]
rs10913644	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11587288	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs12034454	0.89[YRI][hapmap]
rs12406473	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2206541	0.83[YRI][hapmap]
rs2232812	0.81[ASW][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs2232816	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs2232818	0.89[YRI][hapmap]
rs2294717	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs3753538	0.81[ASW][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs56167663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56178029	0.84[AFR][1000 genomes]
rs6425423	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs6695502	0.89[YRI][hapmap]
rs6700184	0.86[YRI][hapmap]
rs7537770	0.83[YRI][hapmap]
rs7541192	0.89[YRI][hapmap]
rs7543608	0.89[AFR][1000 genomes]
rs7556602	0.85[YRI][hapmap]
rs7860	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs909958	0.86[YRI][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
rs11803889	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171739400-171744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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