Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156473925..156475746-chr3:156530904..156533375,2	MCF-7	breast:
2	chr3:156467279..156469344-chr3:156472504..156474597,2	K562	blood:

Variant related genes	Relation type
ENSG00000240875	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12492585	0.81[ASN][1000 genomes]
rs12497777	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13063433	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367311	0.88[CHB][hapmap];0.91[AFR][1000 genomes]
rs17380702	0.86[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs17380954	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs237250	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs343999	0.87[ASN][1000 genomes]
rs344003	0.87[ASN][1000 genomes]
rs344027	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs344028	0.87[ASN][1000 genomes]
rs344034	0.87[ASN][1000 genomes]
rs34901284	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35161260	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs386736	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs55802527	0.81[ASN][1000 genomes]
rs62277393	0.91[AFR][1000 genomes]
rs9289971	0.80[CEU][hapmap];0.88[CHB][hapmap];0.91[AFR][1000 genomes]
rs9822906	0.81[AFR][1000 genomes]
rs9873307	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9882795	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9871258	TIPARP-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156470200-156477800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:156470800-156478000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:156471000-156478400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:156471200-156478000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:156471600-156477800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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