Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:120013241-120013390	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TRIM29	TF binding region

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1287393	0.85[CEU][hapmap]
rs2444240	0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2444242	0.83[CEU][hapmap]
rs2508496	0.83[CEU][hapmap]
rs2845708	0.83[CEU][hapmap]
rs470370	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs470373	0.85[ASN][1000 genomes]
rs470645	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs470941	0.81[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap]
rs471001	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs477863	0.83[CEU][hapmap]
rs488672	0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs521556	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs521841	0.83[CEU][hapmap]
rs529657	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs531260	0.81[ASN][1000 genomes]
rs533636	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs550164	0.81[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap]
rs561498	0.94[JPT][hapmap]
rs566935	0.94[JPT][hapmap]
rs573211	0.81[ASN][1000 genomes]
rs605374	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs670855	0.81[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs470876	NUP210	trans	brain	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120007200-120021400	Weak transcription	Right Atrium	heart
2	chr11:120010800-120018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:120011200-120014200	Enhancers	Esophagus	oesophagus

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