Variant report

Variant	rs2830661
Chromosome Location	chr21:28446988-28446989
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10084599	0.87[ASN][1000 genomes]
rs10222074	0.87[ASN][1000 genomes]
rs1023405	0.88[EUR][1000 genomes]
rs12329903	0.87[ASN][1000 genomes]
rs12627643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12710375	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13433452	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1888429	0.94[ASN][1000 genomes]
rs2088379	0.87[ASN][1000 genomes]
rs2212899	0.84[ASN][1000 genomes]
rs233589	0.87[ASN][1000 genomes]
rs233591	0.87[ASN][1000 genomes]
rs233592	0.87[ASN][1000 genomes]
rs233596	0.87[ASN][1000 genomes]
rs2830657	0.96[ASN][1000 genomes]
rs2830667	0.88[ASN][1000 genomes]
rs2830669	0.89[ASN][1000 genomes]
rs2830670	0.87[ASN][1000 genomes]
rs28544020	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2898105	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7276086	0.94[ASN][1000 genomes]
rs73187896	0.84[ASN][1000 genomes]
rs73187897	0.87[ASN][1000 genomes]
rs8127039	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs884845	0.90[ASN][1000 genomes]
rs9305300	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9647125	0.94[ASN][1000 genomes]
rs9647126	0.94[ASN][1000 genomes]
rs9647127	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9974419	0.87[ASN][1000 genomes]
rs9977437	0.87[ASN][1000 genomes]
rs9981850	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9982753	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9984716	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
6	nsv1063321	chr21:28443774-28460820	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28441000-28449800	Weak transcription	Ovary	ovary
2	chr21:28446800-28447200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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