Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160912791..160913358-chr1:160924111..160924969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158764	Chromatin interaction

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

rs_ID	r²[population]
rs10908815	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11265522	0.81[EUR][1000 genomes]
rs11265526	0.83[EUR][1000 genomes]
rs11265533	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11265534	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11265535	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126310	0.81[EUR][1000 genomes]
rs1981048	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2184066	0.80[EUR][1000 genomes]
rs28368883	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34655593	0.83[EUR][1000 genomes]
rs3829790	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3928804	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656968	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656971	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4656972	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61802165	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6656769	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6680969	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6691389	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7526396	0.82[EUR][1000 genomes]
rs955615	0.95[EUR][1000 genomes];0.92[ASN][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3928803	RP11-312J18.6	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160905800-160919800	Weak transcription	Right Atrium	heart
2	chr1:160911400-160915800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:160911800-160915000	Weak transcription	Gastric	stomach
4	chr1:160911800-160915000	Weak transcription	Ovary	ovary
5	chr1:160911800-160920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:160913000-160915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:160913200-160916400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:160913200-160916800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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