Variant report

Variant	rs8126822
Chromosome Location	chr21:17098563-17098564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr21:17098326-17098751	MCF-7	breast:	n/a	n/a
2	NR2F2	chr21:17098170-17098725	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr21:17098270-17098832	MCF-7	breast:	n/a	n/a
4	MYC	chr21:17098440-17098587	MCF-7	breast:	n/a	n/a
5	GATA3	chr21:17098207-17098678	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr21:17098112-17098978	MCF-7	breast:	n/a	n/a
7	GATA2	chr21:17098243-17098690	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr21:17098378-17098662	MCF-7	breast:	n/a	n/a
9	GATA3	chr21:17098145-17098808	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17097568..17099854-chr21:17101138..17103471,3	K562	blood:
2	chr21:17097568..17099854-chr21:17100603..17103471,4	K562	blood:

Variant related genes	Relation type
USP25	TF binding region
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10482874	1.00[EUR][1000 genomes]
rs11911651	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1474736	1.00[EUR][1000 genomes]
rs16988288	1.00[EUR][1000 genomes]
rs2225401	1.00[EUR][1000 genomes]
rs2823401	1.00[EUR][1000 genomes]
rs2823409	1.00[EUR][1000 genomes]
rs2823410	1.00[EUR][1000 genomes]
rs2823437	1.00[EUR][1000 genomes]
rs2823439	1.00[EUR][1000 genomes]
rs2823442	1.00[EUR][1000 genomes]
rs2823448	1.00[EUR][1000 genomes]
rs2823450	1.00[EUR][1000 genomes]
rs28372331	1.00[EUR][1000 genomes]
rs28465005	1.00[EUR][1000 genomes]
rs28510398	1.00[EUR][1000 genomes]
rs28542389	1.00[EUR][1000 genomes]
rs28542431	1.00[EUR][1000 genomes]
rs28627638	1.00[EUR][1000 genomes]
rs57348380	1.00[EUR][1000 genomes]
rs58963354	1.00[EUR][1000 genomes]
rs61348938	1.00[EUR][1000 genomes]
rs6517555	1.00[EUR][1000 genomes]
rs7281995	1.00[EUR][1000 genomes]
rs7282463	1.00[EUR][1000 genomes]
rs73355441	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73360907	1.00[EUR][1000 genomes]
rs73360910	1.00[EUR][1000 genomes]
rs73360912	1.00[EUR][1000 genomes]
rs73360916	1.00[EUR][1000 genomes]
rs7364033	1.00[EUR][1000 genomes]
rs7510266	1.00[EUR][1000 genomes]
rs8127197	1.00[EUR][1000 genomes]
rs8129950	1.00[EUR][1000 genomes]
rs8130259	1.00[EUR][1000 genomes]
rs8131104	1.00[EUR][1000 genomes]
rs995121	1.00[EUR][1000 genomes]
rs9974439	1.00[EUR][1000 genomes]
rs9974570	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9977583	1.00[EUR][1000 genomes]
rs9977671	1.00[EUR][1000 genomes]
rs9978819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9979887	1.00[EUR][1000 genomes]
rs9980143	1.00[EUR][1000 genomes]
rs9981034	1.00[EUR][1000 genomes]
rs9981661	1.00[EUR][1000 genomes]
rs9982635	1.00[EUR][1000 genomes]
rs9983023	1.00[EUR][1000 genomes]
rs9983852	1.00[EUR][1000 genomes]
rs9983961	1.00[EUR][1000 genomes]
rs9984675	1.00[EUR][1000 genomes]
rs9984939	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1060139	chr21:17057044-17100275	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17096800-17101800	Weak transcription	Placenta	Placenta
2	chr21:17097600-17101600	Weak transcription	H9 Cell Line	embryonic stem cell

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