Variant report

Variant	rs239678
Chromosome Location	chr21:28774317-28774318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16980566	0.82[EUR][1000 genomes]
rs183006	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1979179	0.82[EUR][1000 genomes]
rs1979181	0.82[EUR][1000 genomes]
rs239659	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs239661	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs239662	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs239663	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs239664	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs239666	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs239667	0.89[EUR][1000 genomes]
rs239674	0.89[EUR][1000 genomes]
rs2830928	0.85[EUR][1000 genomes]
rs2830931	0.82[EUR][1000 genomes]
rs2830932	0.82[EUR][1000 genomes]
rs2830934	0.82[EUR][1000 genomes]
rs2830936	0.82[EUR][1000 genomes]
rs2830937	0.82[EUR][1000 genomes]
rs2830938	0.82[EUR][1000 genomes]
rs56865146	0.82[EUR][1000 genomes]
rs57333997	0.81[EUR][1000 genomes]
rs59472353	0.82[EUR][1000 genomes]
rs72635039	0.82[EUR][1000 genomes]
rs72635040	0.82[EUR][1000 genomes]
rs72635041	0.82[EUR][1000 genomes]
rs72635042	0.82[EUR][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	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1061112	chr21:28738028-28775601	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28772400-28777200	Weak transcription	Fetal Lung	lung
2	chr21:28772600-28786200	Weak transcription	Fetal Heart	heart
3	chr21:28774000-28778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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