Variant report

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:125951797-125952147	K562	blood:	n/a	n/a
2	RCOR1	chr8:125951783-125952063	K562	blood:	n/a	n/a
3	SPI1	chr8:125951825-125952096	K562	blood:	n/a	n/a
4	POLR2A	chr8:125951995-125952022	K562	blood:	n/a	n/a
5	MAX	chr8:125951829-125952043	K562	blood:	n/a	n/a
6	BHLHE40	chr8:125951792-125952095	K562	blood:	n/a	n/a
7	MAZ	chr8:125951851-125952028	K562	blood:	n/a	n/a
8	MYC	chr8:125951792-125952017	K562	blood:	n/a	n/a
9	ZNF384	chr8:125951910-125952168	K562	blood:	n/a	n/a
10	MAX	chr8:125951785-125952072	K562	blood:	n/a	n/a
11	TBP	chr8:125951779-125952049	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125938234..125940931-chr8:125949663..125952183,2	MCF-7	breast:
2	chr8:125951265..125953100-chr8:125983805..125986382,2	MCF-7	breast:
3	chr8:125825851..125829198-chr8:125950064..125952936,3	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11779177	0.89[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap]
rs11786449	0.88[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13273002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16900098	0.89[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1820535	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs35278050	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4409410	0.81[ASN][1000 genomes]
rs60275472	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5012401	NSMCE2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125949200-125954000	Weak transcription	Left Ventricle	heart
2	chr8:125950000-125954200	Weak transcription	Right Ventricle	heart
3	chr8:125950000-125958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125950200-125953400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:125950200-125954200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:125951800-125954600	Enhancers	Brain Germinal Matrix	brain
7	chr8:125952000-125952200	Enhancers	Fetal Heart	heart
8	chr8:125952000-125952600	Enhancers	K562	blood
9	chr8:125952000-125953400	Weak transcription	HSMMtube	muscle

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