Variant report

Variant	rs1059010
Chromosome Location	chr21:47124833-47124834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47124595..47126152-chr21:47133056..47135295,2	MCF-7	breast:
2	chr21:47122343..47125254-chr21:47159876..47161705,2	MCF-7	breast:
3	chr21:47119012..47122239-chr21:47123124..47126324,3	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11089025	1.00[ASN][1000 genomes]
rs11701130	1.00[ASN][1000 genomes]
rs2014421	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2150453	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2150454	1.00[ASN][1000 genomes]
rs2183599	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2210290	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2277812	1.00[ASN][1000 genomes]
rs2330327	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839021	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839030	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839033	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839035	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2839039	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2839041	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2839050	1.00[ASN][1000 genomes]
rs2839054	1.00[ASN][1000 genomes]
rs3788217	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3788218	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3788226	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3788228	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4818804	1.00[ASN][1000 genomes]
rs4819143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819159	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6518257	1.00[ASN][1000 genomes]
rs6518258	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6518259	1.00[ASN][1000 genomes]
rs71324446	1.00[ASN][1000 genomes]
rs7276114	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7277632	1.00[ASN][1000 genomes]
rs7279887	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7280054	1.00[ASN][1000 genomes]
rs7280405	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7283688	1.00[ASN][1000 genomes]
rs7410101	1.00[ASN][1000 genomes]
rs753092	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs8128820	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8133932	1.00[ASN][1000 genomes]
rs9637207	1.00[ASN][1000 genomes]
rs9653780	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9653791	1.00[ASN][1000 genomes]
rs9976042	1.00[ASN][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	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47102600-47138400	Weak transcription	Fetal Thymus	thymus
2	chr21:47118600-47125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:47119000-47128800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:47119400-47133200	Weak transcription	Thymus	Thymus
5	chr21:47119400-47134800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:47120600-47126200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:47121000-47126400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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