Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:159750040..159752426-chr1:159758768..159761258,2	MCF-7	breast:
2	chr1:159750269..159753120-chr1:159758880..159761899,3	K562	blood:
3	chr1:159750705..159753120-chr1:159759879..159763488,4	K562	blood:
4	chr1:159760951..159764398-chr1:159766034..159769710,4	K562	blood:
5	chr1:159759779..159761962-chr1:159764017..159765715,2	K562	blood:
6	chr1:159750162..159750888-chr1:159760813..159761373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158716	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11591079	1.00[CHB][hapmap]
rs12067754	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1320570	1.00[CHB][hapmap]
rs17427209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2789415	1.00[CHB][hapmap]
rs2789416	1.00[CHB][hapmap]
rs2789417	1.00[CHB][hapmap]
rs2789418	1.00[CHB][hapmap]
rs2820579	1.00[CHB][hapmap]
rs2820584	1.00[CHB][hapmap]
rs2840583	1.00[CHB][hapmap]
rs2840588	1.00[CHB][hapmap]
rs3001288	1.00[CHB][hapmap]
rs3934772	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3934773	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3934775	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6662675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6662918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6686214	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs876538	1.00[CHB][hapmap]

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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159760000-159761600	Enhancers	Fetal Intestine Small	intestine
2	chr1:159760200-159761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:159760200-159762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:159760400-159761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:159760800-159761200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:159760800-159761200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:159760800-159761400	Enhancers	HUVEC	blood vessel

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