Variant report

Variant	rs2823456
Chromosome Location	chr21:17072262-17072263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007774	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10482873	1.00[EUR][1000 genomes]
rs11910098	1.00[EUR][1000 genomes]
rs12106443	1.00[EUR][1000 genomes]
rs16988682	1.00[EUR][1000 genomes]
rs16988797	1.00[EUR][1000 genomes]
rs16989451	1.00[EUR][1000 genomes]
rs16989491	1.00[EUR][1000 genomes]
rs16990117	1.00[EUR][1000 genomes]
rs16990578	1.00[EUR][1000 genomes]
rs16990828	1.00[EUR][1000 genomes]
rs2056895	1.00[EUR][1000 genomes]
rs2823336	1.00[EUR][1000 genomes]
rs2823339	1.00[EUR][1000 genomes]
rs2823388	1.00[EUR][1000 genomes]
rs2823391	1.00[EUR][1000 genomes]
rs2823458	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823466	0.87[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823475	1.00[EUR][1000 genomes]
rs2823478	1.00[MEX][hapmap]
rs2823485	1.00[MEX][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2823490	1.00[EUR][1000 genomes]
rs28373635	1.00[EUR][1000 genomes]
rs28483497	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593618	1.00[EUR][1000 genomes]
rs28896184	1.00[EUR][1000 genomes]
rs41384050	1.00[EUR][1000 genomes]
rs56093324	1.00[EUR][1000 genomes]
rs725799	1.00[EUR][1000 genomes]
rs7278140	1.00[EUR][1000 genomes]
rs73343627	1.00[EUR][1000 genomes]
rs73343632	1.00[EUR][1000 genomes]
rs73343642	1.00[EUR][1000 genomes]
rs73346759	1.00[EUR][1000 genomes]
rs73348660	1.00[EUR][1000 genomes]
rs73360728	1.00[EUR][1000 genomes]
rs764003	1.00[EUR][1000 genomes]
rs9967949	0.86[YRI][hapmap]
rs9983290	1.00[EUR][1000 genomes]
rs9984076	1.00[EUR][1000 genomes]
rs9984269	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1056833	chr21:17018524-17086705	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1844987	chr21:17033833-17088977	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	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	chr21:17059800-17079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:17070800-17075000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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