Variant report

Variant	rs4074726
Chromosome Location	chr12:85671452-85671453
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	MAFF	chr12:85671450-85671692	HepG2	liver:	n/a	chr12:85671585-85671603
2	POLR2A	chr12:85671434-85672003	H1-neurons	neurons:	n/a	n/a
3	MAFK	chr12:85671442-85671608	HepG2	liver:	n/a	chr12:85671586-85671602 chr12:85671586-85671601
4	SUZ12	chr12:85670810-85673700	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:85671305-85679401	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ALX1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1011728	0.95[EUR][1000 genomes]
rs10160886	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap]
rs10506912	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs10779148	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs10862955	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs11116701	0.80[CEU][hapmap]
rs11116702	0.80[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap];0.80[MEX][hapmap]
rs11116704	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs11116707	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs11116708	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs11116712	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs11608487	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11608773	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11612309	0.80[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap]
rs12315575	0.83[EUR][1000 genomes]
rs12810608	0.92[GIH][hapmap];0.87[TSI][hapmap]
rs12823090	0.81[ASN][1000 genomes]
rs12824401	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1389798	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs1507214	0.81[ASN][1000 genomes]
rs1512732	0.83[EUR][1000 genomes]
rs1512734	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2048123	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs2174754	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs2404772	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.82[TSI][hapmap]
rs2404773	0.87[GIH][hapmap];0.84[MEX][hapmap]
rs34027134	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34688666	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34990032	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35338871	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35388734	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4076027	0.83[EUR][1000 genomes]
rs4761077	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs4761113	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs4761114	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs4761131	0.96[EUR][1000 genomes]
rs6539889	0.83[EUR][1000 genomes]
rs7135053	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap]
rs73165932	0.94[ASN][1000 genomes]
rs73165934	0.96[ASN][1000 genomes]
rs73165949	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7486483	0.83[EUR][1000 genomes]
rs7956568	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap]
rs7966105	0.81[ASN][1000 genomes]
rs7974623	0.84[CEU][hapmap];0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899388	chr12:85427691-85766847	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040622	chr12:85502226-85693132	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541558	chr12:85502226-85693132	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv559662	chr12:85544429-85734069	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv2761757	chr12:85626466-85741934	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv899392	chr12:85638089-85734069	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv533923	chr12:85647133-85713608	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85667600-85671800	Weak transcription	Spleen	Spleen
2	chr12:85670400-85672600	Weak transcription	Hela-S3	cervix
3	chr12:85671200-85671600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:85671200-85671800	Bivalent Enhancer	Fetal Lung	lung
5	chr12:85671400-85671600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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