Variant report

Variant	rs4687877
Chromosome Location	chr3:119417365-119417366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr3:119417171-119417449	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MAATS1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13082557	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34605021	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34845376	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35010368	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35012220	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35141348	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35228066	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35403027	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35864899	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35918837	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35931410	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4234664	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4688028	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4688029	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6786722	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6801778	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71325399	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7612861	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7612954	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7613408	0.92[CEU][hapmap]
rs7617287	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7617290	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7624404	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7634701	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7644545	0.91[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv591391	chr3:119403145-119442572	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4687877	MAATS1	cis	Thyroid	GTEx
rs4687877	MAATS1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119406000-119421400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:119416600-119418400	Enhancers	GM12878-XiMat	blood

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