Variant report

Variant	rs1993952
Chromosome Location	chr5:27320909-27320910
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	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10058813	0.97[EUR][1000 genomes]
rs12153780	1.00[EUR][1000 genomes]
rs12188151	0.93[EUR][1000 genomes]
rs1382909	0.93[EUR][1000 genomes]
rs16896634	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16896639	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16896645	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16896651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16896657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16896665	1.00[EUR][1000 genomes]
rs16896676	0.97[EUR][1000 genomes]
rs16899573	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1993951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34502	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3846563	1.00[EUR][1000 genomes]
rs3966086	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4367261	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065921	0.97[EUR][1000 genomes]
rs73065935	1.00[EUR][1000 genomes]
rs73065948	0.97[EUR][1000 genomes]
rs73067906	0.97[EUR][1000 genomes]
rs73746095	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73746096	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73746097	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73746098	1.00[EUR][1000 genomes]
rs73746099	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73746100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7701855	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7716017	0.97[EUR][1000 genomes]
rs7716845	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7718306	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868856	chr5:26789778-27321390	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv3450425	chr5:27134073-27323407	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv881286	chr5:27135351-27770554	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv880298	chr5:27193573-27659111	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv880326	chr5:27193573-27743375	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv881387	chr5:27264941-27373862	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv880623	chr5:27279981-27559659	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv880525	chr5:27308254-27447863	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv880974	chr5:27308663-27357356	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1029060	chr5:27313831-27411288	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27316800-27329600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:27320800-27321000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:27320800-27321000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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