Variant report

Variant	rs7713591
Chromosome Location	chr5:108450538-108450539
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	chr5:108450522..108453452-chr5:108454004..108456725,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17163944	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57781150	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57863249	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59672639	0.81[AFR][1000 genomes]
rs6861826	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6861979	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6883750	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs72796555	0.80[EUR][1000 genomes]
rs72796561	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72796570	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796573	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72796578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796580	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796581	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72796587	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796592	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72796600	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72798561	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72798563	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72798571	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72798572	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7701171	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7701332	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7704839	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7704875	1.00[YRI][hapmap]
rs7736207	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv882692	chr5:108391660-108474166	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882693	chr5:108391660-108502493	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv4953	chr5:108443905-108488747	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108441600-108455600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:108441800-108455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:108442000-108497400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:108442800-108455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:108444200-108455600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:108447800-108455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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