Variant report

Variant	rs8020691
Chromosome Location	chr14:64029640-64029641
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64028657..64030519-chr14:64106654..64108716,2	MCF-7	breast:
2	chr14:64009657..64011362-chr14:64029023..64031031,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154001	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10131665	1.00[EUR][1000 genomes]
rs10137908	1.00[CEU][hapmap]
rs11847188	1.00[CEU][hapmap]
rs11847332	1.00[CEU][hapmap]
rs17101144	1.00[CEU][hapmap]
rs17101315	1.00[CEU][hapmap]
rs2236339	1.00[CEU][hapmap]
rs28373566	1.00[CEU][hapmap]
rs28594107	1.00[EUR][1000 genomes]
rs28796021	1.00[CEU][hapmap]
rs57382236	1.00[EUR][1000 genomes]
rs59574119	1.00[EUR][1000 genomes]
rs60622367	1.00[EUR][1000 genomes]
rs60770727	1.00[EUR][1000 genomes]
rs61294226	1.00[EUR][1000 genomes]
rs61302639	1.00[EUR][1000 genomes]
rs61732995	1.00[AMR][1000 genomes]
rs6573526	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6573527	1.00[EUR][1000 genomes]
rs7152052	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7154057	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7154795	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7155345	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7155351	1.00[CEU][hapmap]
rs7156973	1.00[EUR][1000 genomes]
rs7157776	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73263609	1.00[EUR][1000 genomes]
rs73263615	1.00[EUR][1000 genomes]
rs73263621	1.00[EUR][1000 genomes]
rs73263701	1.00[EUR][1000 genomes]
rs73265704	1.00[EUR][1000 genomes]
rs73265710	1.00[EUR][1000 genomes]
rs73265721	1.00[EUR][1000 genomes]
rs73265728	1.00[EUR][1000 genomes]
rs73265735	1.00[EUR][1000 genomes]
rs73265739	1.00[EUR][1000 genomes]
rs73267623	1.00[EUR][1000 genomes]
rs73280648	1.00[EUR][1000 genomes]
rs73280651	1.00[EUR][1000 genomes]
rs74060101	1.00[EUR][1000 genomes]
rs8004836	1.00[EUR][1000 genomes]
rs8006499	1.00[CEU][hapmap]
rs8010598	1.00[EUR][1000 genomes]
rs8012866	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8018439	1.00[EUR][1000 genomes]
rs8018580	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8020030	1.00[EUR][1000 genomes]
rs974700	1.00[CEU][hapmap]

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv974442	chr14:64024425-64046914	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8020691	RAGE	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64027600-64030200	Weak transcription	Placenta	Placenta
2	chr14:64029000-64029800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:64029200-64032400	Enhancers	Hela-S3	cervix
4	chr14:64029400-64031600	Enhancers	HMEC	breast

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