Variant report

Variant	rs6438543
Chromosome Location	chr3:119418745-119418746
allele	C/T
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	MTA3	chr3:119418693-119419925	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MAATS1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10934497	0.85[AMR][1000 genomes]
rs12721613	1.00[MEX][hapmap]
rs1523128	1.00[MEX][hapmap]
rs1523129	1.00[MEX][hapmap]
rs2472668	1.00[MEX][hapmap]
rs2688635	1.00[MEX][hapmap]
rs2688643	1.00[MEX][hapmap]
rs2692619	1.00[MEX][hapmap]
rs4234663	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234665	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4355316	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4411917	0.87[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4579049	1.00[AMR][1000 genomes]
rs4687878	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4687879	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4687880	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4687883	1.00[MEX][hapmap]
rs4688038	1.00[MEX][hapmap]
rs6438544	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6792664	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624672	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624768	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs940087	1.00[MEX][hapmap]
rs9816750	1.00[MEX][hapmap]
rs9834908	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9838456	1.00[MEX][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

No data

Chromatin state (count:3 , 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	chr3:119418400-119421200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:119418400-119422200	ZNF genes & repeats	GM12878-XiMat	blood

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