Variant report

Variant	rs2830578
Chromosome Location	chr21:28279963-28279964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10482979	0.84[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11700721	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047132	0.91[EUR][1000 genomes]
rs13047248	0.92[EUR][1000 genomes]
rs13048083	0.92[EUR][1000 genomes]
rs13051983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444269	0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs1444273	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149415	0.93[EUR][1000 genomes]
rs2017616	0.92[EUR][1000 genomes]
rs229053	1.00[CHD][hapmap]
rs2830576	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830590	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2830591	0.84[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3171407	0.93[EUR][1000 genomes]
rs34609314	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35197958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35274919	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35275133	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36125779	0.92[EUR][1000 genomes]
rs3746836	0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs62215975	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215996	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7283958	0.92[EUR][1000 genomes]
rs8130155	0.82[TSI][hapmap]
rs965135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28276400-28281400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr21:28276400-28282200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:28276400-28284400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:28276600-28281800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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