Variant report

Variant	rs6689406
Chromosome Location	chr1:45597165-45597166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45595180..45598267-chr1:45601398..45603703,3	K562	blood:
2	chr1:45595180..45597948-chr1:45601398..45603703,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10127477	1.00[AMR][1000 genomes]
rs10127522	1.00[AMR][1000 genomes]
rs10128015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13373924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376626	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28430778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659393	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665903	1.00[AMR][1000 genomes]
rs6665943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6693384	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702757	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45590000-45627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45596600-45600400	Weak transcription	HepG2	liver

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