Variant report

Variant	rs434549
Chromosome Location	chr21:15608853-15608854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs108885	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1739487	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2110153	0.84[CHB][hapmap]
rs2236001	0.84[CHB][hapmap]
rs2822520	0.92[CHB][hapmap]
rs2822521	0.84[CHB][hapmap]
rs2822523	0.84[CHB][hapmap]
rs367249	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs367620	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs367718	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs369923	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs372649	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs375370	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377297	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs378280	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs379724	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs384358	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs385758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs389338	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs389493	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs400385	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs402462	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs405396	0.88[ASN][1000 genomes]
rs410757	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs411359	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419398	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs423169	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs424021	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs424759	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs430245	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431238	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs437162	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs437521	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs452794	0.82[ASN][1000 genomes]
rs718670	0.92[CHB][hapmap]
rs718671	0.92[CHB][hapmap]
rs718672	0.83[CHB][hapmap]
rs718673	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1056588	chr21:15583231-15615520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island 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	chr21:15608400-15609000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr21:15608400-15609400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr21:15608600-15609400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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