Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117937376..117941223-chr8:117943735..117947072,4	MCF-7	breast:
2	chr8:117937373..117941918-chr8:117949210..117953570,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205002	Chromatin interaction

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

rs_ID	r²[population]
rs14795	0.93[JPT][hapmap]
rs1584218	0.97[ASN][1000 genomes]
rs16889115	1.00[CEU][hapmap]
rs2241981	0.93[JPT][hapmap]
rs2241982	0.92[JPT][hapmap]
rs2921728	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921737	0.97[ASN][1000 genomes]
rs2921746	0.97[ASN][1000 genomes]
rs2921749	0.95[ASN][1000 genomes]
rs2921775	0.93[JPT][hapmap]
rs2921784	0.92[JPT][hapmap]
rs2921785	0.93[JPT][hapmap]
rs2921787	0.92[JPT][hapmap]
rs2921788	0.93[JPT][hapmap]
rs2921789	0.93[JPT][hapmap]
rs2921790	0.93[JPT][hapmap]
rs2921791	0.92[JPT][hapmap]
rs3020109	0.93[JPT][hapmap]
rs3020111	0.93[JPT][hapmap]
rs3020125	0.93[JPT][hapmap]
rs3020133	0.93[JPT][hapmap]
rs3020162	0.97[ASN][1000 genomes]
rs3020169	0.97[ASN][1000 genomes]
rs3020170	0.97[ASN][1000 genomes]
rs3020172	0.97[ASN][1000 genomes]
rs3020173	0.97[ASN][1000 genomes]
rs3020181	0.93[JPT][hapmap]
rs6996153	0.85[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117929400-117938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:117933400-117938400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:117933400-117938400	Weak transcription	Hela-S3	cervix
4	chr8:117935400-117938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:117936600-117938400	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:117937200-117938600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:117938000-117939400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:117938000-117940400	Enhancers	HMEC	breast

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