Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:177508809..177511243-chr2:177517580..177519321,2	K562	blood:
2	chr2:177508167..177510114-chr2:177515846..177517517,2	K562	blood:
3	chr2:177502565..177504869-chr2:177507966..177509530,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163364	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10179687	0.81[EUR][1000 genomes]
rs10210519	0.81[EUR][1000 genomes]
rs1054978	0.85[EUR][1000 genomes]
rs12467496	0.83[EUR][1000 genomes]
rs12617412	0.81[EUR][1000 genomes]
rs13019019	0.83[EUR][1000 genomes]
rs13395810	0.83[EUR][1000 genomes]
rs1448531	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1562611	0.84[EUR][1000 genomes]
rs17411687	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17610485	0.81[EUR][1000 genomes]
rs1868340	0.83[EUR][1000 genomes]
rs1975589	0.84[EUR][1000 genomes]
rs2922312	0.84[ASN][1000 genomes]
rs35704455	0.84[EUR][1000 genomes]
rs4893911	0.85[EUR][1000 genomes]
rs4893912	0.85[EUR][1000 genomes]
rs4893914	0.81[EUR][1000 genomes]
rs4894189	0.85[EUR][1000 genomes]
rs4894190	0.85[EUR][1000 genomes]
rs6433602	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6753693	0.85[EUR][1000 genomes]
rs6760357	0.82[EUR][1000 genomes]
rs7585434	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834464	chr2:177375743-177534410	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177503000-177509800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:177504200-177511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:177508400-177509400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr2:177508600-177518400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:177509000-177509200	Flanking Active TSS	Spleen	Spleen
6	chr2:177509000-177515400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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