Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117923879..117925641-chr8:117929094..117931587,2	K562	blood:
2	chr8:117923883..117926723-chr8:117926921..117928752,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs14795	1.00[JPT][hapmap]
rs1584218	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241981	1.00[JPT][hapmap]
rs2241982	1.00[JPT][hapmap]
rs2921724	1.00[EUR][1000 genomes]
rs2921728	0.97[ASN][1000 genomes]
rs2921737	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921754	0.85[AMR][1000 genomes]
rs2921757	0.84[AMR][1000 genomes]
rs2921770	0.84[AMR][1000 genomes]
rs2921772	0.84[AMR][1000 genomes]
rs2921774	0.84[AMR][1000 genomes]
rs2921775	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs2921784	1.00[JPT][hapmap]
rs2921785	1.00[JPT][hapmap]
rs2921787	1.00[JPT][hapmap]
rs2921788	1.00[JPT][hapmap]
rs2921789	1.00[JPT][hapmap]
rs2921790	1.00[JPT][hapmap]
rs2921791	1.00[JPT][hapmap]
rs3020109	1.00[JPT][hapmap]
rs3020111	1.00[JPT][hapmap]
rs3020125	1.00[JPT][hapmap]
rs3020133	1.00[JPT][hapmap]
rs3020136	0.84[AMR][1000 genomes]
rs3020140	0.84[AMR][1000 genomes]
rs3020169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020170	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020172	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020173	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3020181	1.00[JPT][hapmap]
rs6996153	0.91[JPT][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA 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	chr8:117924600-117925600	Enhancers	Placenta	Placenta
2	chr8:117924600-117925600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:117925000-117925200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:117925000-117925200	Enhancers	HepG2	liver
5	chr8:117925000-117925600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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