Variant report

Variant	rs7825193
Chromosome Location	chr8:120120901-120120902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120119326..120121225-chr8:120220294..120222279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1064556	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1064557	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13260242	0.81[JPT][hapmap]
rs1601394	0.87[ASN][1000 genomes]
rs16891948	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16891954	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16891962	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16891984	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16892035	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16892053	0.92[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs16892077	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16892088	0.98[ASN][1000 genomes]
rs16892098	0.85[AFR][1000 genomes]
rs16892190	0.94[ASN][1000 genomes]
rs3829047	1.00[JPT][hapmap]
rs56095688	0.96[ASN][1000 genomes]
rs56940872	0.94[ASN][1000 genomes]
rs57031367	0.93[ASN][1000 genomes]
rs57099703	0.96[ASN][1000 genomes]
rs57938217	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs58035790	0.94[ASN][1000 genomes]
rs58881257	0.85[AFR][1000 genomes]
rs59545571	0.93[ASN][1000 genomes]
rs60191681	0.97[ASN][1000 genomes]
rs60449953	0.96[ASN][1000 genomes]
rs60665520	0.96[ASN][1000 genomes]
rs61390727	0.96[ASN][1000 genomes]
rs6469809	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6981320	0.96[ASN][1000 genomes]
rs6984886	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6989684	0.85[AFR][1000 genomes]
rs6990729	0.99[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7004816	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73327248	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73327249	0.97[ASN][1000 genomes]
rs73327257	0.98[ASN][1000 genomes]
rs73327262	0.99[ASN][1000 genomes]
rs73327264	0.98[ASN][1000 genomes]
rs73327271	0.99[ASN][1000 genomes]
rs73709632	0.96[ASN][1000 genomes]
rs73712719	0.96[ASN][1000 genomes]
rs7828020	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1804892	chr8:120120429-120161140	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810588	chr8:120120429-120168446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1808446	chr8:120120901-120168446	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120115200-120121000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:120119000-120121000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:120120200-120121000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:120120800-120121400	ZNF genes & repeats	Fetal Intestine Small	intestine

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