Variant report

Variant	rs2830741
Chromosome Location	chr21:28540905-28540906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12483048	0.93[ASN][1000 genomes]
rs12483067	0.93[ASN][1000 genomes]
rs1676549	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1676557	0.83[EUR][1000 genomes]
rs2257178	0.84[EUR][1000 genomes]
rs2830727	0.87[CEU][hapmap]
rs2830731	0.85[EUR][1000 genomes]
rs2830742	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830743	0.93[ASN][1000 genomes]
rs2830744	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2830749	0.93[ASN][1000 genomes]
rs2830752	0.86[ASN][1000 genomes]
rs2830755	0.86[ASN][1000 genomes]
rs718136	0.82[ASN][1000 genomes]
rs8134462	0.93[ASN][1000 genomes]
rs969988	0.86[ASN][1000 genomes]
rs9974335	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28540200-28541200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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