Variant report

Variant	rs7016723
Chromosome Location	chr8:125892087-125892088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125878085..125882426-chr8:125889275..125893034,5	MCF-7	breast:
2	chr8:125890513..125892129-chr8:125892200..125894827,2	MCF-7	breast:
3	chr8:125885238..125886912-chr8:125890382..125892259,2	MCF-7	breast:
4	chr8:125891889..125894813-chr8:125896183..125898744,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10956221	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11987831	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12681718	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13252227	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4870929	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4870930	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4871557	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4871559	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4871561	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4871566	0.82[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470291	0.86[ASN][1000 genomes]
rs6470293	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs6470295	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6470297	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6470299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6470301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470304	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470310	0.81[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470312	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470315	0.81[CHB][hapmap];0.92[AMR][1000 genomes]
rs6470316	0.81[CHB][hapmap];0.88[AMR][1000 genomes]
rs6470317	0.86[AMR][1000 genomes]
rs6470318	0.83[AMR][1000 genomes]
rs6470325	0.87[AMR][1000 genomes]
rs7011950	0.81[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7387254	0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7388465	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7459652	0.86[ASN][1000 genomes]
rs7461228	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7463183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7463584	0.84[AMR][1000 genomes]
rs7463657	0.86[ASN][1000 genomes]
rs7464601	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7464910	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7819873	0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7820706	0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7820918	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7821070	0.81[AMR][1000 genomes]
rs7834577	0.86[AMR][1000 genomes]
rs7845589	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9987227	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv3404810	chr8:125889954-125895701	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125887200-125900200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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