Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27411520..27413922-chr7:27416593..27418466,2	MCF-7	breast:
2	7:27238414-27242313..7:27414540-27418435	K562	blood:

Variant related genes	Relation type
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1007862	0.81[ASN][1000 genomes]
rs10245801	0.82[CHB][hapmap];0.83[AMR][1000 genomes]
rs10951165	0.91[CHB][hapmap]
rs11520770	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11563321	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11563380	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs11563567	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs11563971	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11563976	0.82[CHB][hapmap]
rs11978918	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12674312	0.80[AMR][1000 genomes]
rs17429177	0.83[CHB][hapmap]
rs17429249	0.85[AMR][1000 genomes]
rs17429361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17429641	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs17429648	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs17439221	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs17439235	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2003460	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2106926	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs28398514	0.80[YRI][hapmap]
rs4298409	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4357199	0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4470906	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs6957441	0.91[CHB][hapmap]
rs6957649	0.91[CHB][hapmap]
rs929242	0.91[CHB][hapmap]
rs9332393	0.81[ASN][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	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27416600-27417000	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:27416600-27417000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:27416600-27417000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:27416600-27417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:27416600-27417200	Enhancers	HUVEC	blood vessel

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