Variant report

Variant	rs975828
Chromosome Location	chr21:15729517-15729518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11088017	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13050350	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2822625	0.91[ASN][1000 genomes]
rs2822626	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2822627	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822628	0.89[ASN][1000 genomes]
rs2822634	0.88[ASN][1000 genomes]
rs2822637	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35215294	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6516754	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71315768	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs71315769	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15729000-15729600	Enhancers	HMEC	breast
2	chr21:15729000-15729600	Enhancers	NHEK	skin
3	chr21:15729200-15729600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:15729200-15729600	Enhancers	Esophagus	oesophagus
5	chr21:15729400-15730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:15729400-15730400	Weak transcription	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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