Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:23836908..23839776-chr3:23846175..23848631,2	MCF-7	breast:
2	chr3:23829946..23833949-chr3:23837570..23841680,4	K562	blood:
3	chr3:23835585..23837105-chr3:23838131..23840235,2	K562	blood:
4	chr3:23837675..23840648-chr3:23847507..23849212,2	MCF-7	breast:
5	chr3:23837604..23842638-chr3:23843471..23851742,9	K562	blood:

Variant related genes	Relation type
ENSG00000223791	Chromatin interaction
ENSG00000170142	Chromatin interaction

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

rs_ID	r²[population]
rs1057710	0.82[ASN][1000 genomes]
rs1136155	0.85[CHB][hapmap]
rs11710679	0.85[CHB][hapmap]
rs11718625	0.85[CHB][hapmap]
rs11922609	0.81[MEX][hapmap]
rs12485562	0.97[ASN][1000 genomes]
rs13318927	0.82[CHB][hapmap]
rs17787211	0.85[CHB][hapmap]
rs2001209	0.85[MEX][hapmap]
rs3762767	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858089	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6550801	0.86[JPT][hapmap]
rs6765292	0.85[CHB][hapmap]
rs6768429	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs6789983	0.85[CHB][hapmap]
rs7634023	0.86[JPT][hapmap]
rs7642531	0.94[ASN][1000 genomes]
rs8933	0.85[CHB][hapmap]
rs9836970	0.85[CHB][hapmap]
rs9851068	0.86[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs9857442	0.85[CHB][hapmap]
rs9876561	0.85[CHB][hapmap]

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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10865790	NKIRAS1	cis	parietal	SCAN
rs10865790	NR1D2	Cis_1M	lymphoblastoid	RTeQTL
rs10865790	ZNF385D	cis	parietal	SCAN
rs10865790	NR1D2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23831600-23839800	Weak transcription	Right Atrium	heart
2	chr3:23838800-23840200	Enhancers	GM12878-XiMat	blood
3	chr3:23839000-23839800	Enhancers	Monocytes-CD14+_RO01746	blood

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