Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:150492633..150496466-chr3:150500350..150503756,3	MCF-7	breast:
2	chr3:150476989..150478844-chr3:150495018..150496645,2	MCF-7	breast:
3	chr3:150491700..150494169-chr3:150496061..150497673,2	K562	blood:
4	chr3:150478942..150482088-chr3:150496182..150498924,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181788	Chromatin interaction
ENSG00000244265	Chromatin interaction

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

rs_ID	r²[population]
rs1444197	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16862842	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1838337	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1915365	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2120596	0.82[AMR][1000 genomes]
rs34348847	0.84[AMR][1000 genomes]
rs34771595	0.81[AMR][1000 genomes]
rs41372346	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41454348	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57869178	0.82[ASN][1000 genomes]
rs58403524	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58418105	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60092981	0.82[AMR][1000 genomes]
rs60523415	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60538652	0.82[AMR][1000 genomes]
rs6795396	0.80[ASN][1000 genomes]
rs6803830	0.81[EUR][1000 genomes]
rs71764080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72993403	0.80[ASN][1000 genomes]
rs73010947	0.88[ASN][1000 genomes]
rs73010967	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73869297	0.83[AMR][1000 genomes]
rs7628481	0.83[AMR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv966961	chr3:150490481-150498929	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56840421	EPM2AIP1	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150484200-150498600	Weak transcription	Fetal Intestine Small	intestine
2	chr3:150491800-150497200	Weak transcription	HepG2	liver
3	chr3:150493200-150496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:150493200-150496400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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