Variant report

Variant	rs2017076
Chromosome Location	chr21:40100949-40100950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1543656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410050	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836644	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2836645	1.00[ASN][1000 genomes]
rs2836648	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61585212	1.00[ASN][1000 genomes]
rs735249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40095000-40106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40097600-40101800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:40097800-40101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:40098000-40101800	Weak transcription	Aorta	Aorta
5	chr21:40098000-40101800	Weak transcription	NHEK	skin
6	chr21:40098000-40105800	Weak transcription	Dnd41	blood
7	chr21:40098200-40102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:40098400-40101800	Weak transcription	Esophagus	oesophagus
9	chr21:40099000-40101800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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