Variant report

Variant	rs12228924
Chromosome Location	chr12:48509770-48509771
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	STAT3	chr12:48509616-48509792	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr12:48509619-48510024	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48498261..48500251-chr12:48508145..48510473,2	K562	blood:

Variant related genes	Relation type
PFKM	TF binding region
ENSG00000152556	Chromatin interaction
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10492082	0.87[EUR][1000 genomes]
rs1049392	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747529	0.85[ASN][1000 genomes]
rs10875733	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.94[EUR][1000 genomes]
rs10875739	0.85[ASN][1000 genomes]
rs10875741	0.91[ASN][1000 genomes]
rs10875744	0.93[ASN][1000 genomes]
rs10875752	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875759	0.82[ASN][1000 genomes]
rs10875761	0.90[CEU][hapmap];0.91[GIH][hapmap];0.82[ASN][1000 genomes]
rs11168353	0.95[GIH][hapmap]
rs11168363	0.81[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap]
rs11168364	0.81[CEU][hapmap];0.95[GIH][hapmap]
rs11168373	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs11168378	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168404	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168412	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168417	0.90[CEU][hapmap];0.95[GIH][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168419	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168424	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168434	0.91[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168435	0.90[CEU][hapmap];0.91[GIH][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168438	0.81[ASN][1000 genomes]
rs11168439	0.81[ASN][1000 genomes]
rs11168448	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs11168453	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs11168454	0.81[CEU][hapmap]
rs11832455	0.83[ASN][1000 genomes]
rs11834818	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12422355	0.91[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12425679	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426981	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17122567	0.87[GIH][hapmap]
rs2107640	0.84[ASN][1000 genomes]
rs2158515	0.93[ASN][1000 genomes]
rs2240306	0.93[EUR][1000 genomes]
rs2286020	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742075	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56129148	0.86[ASN][1000 genomes]
rs57430775	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58540891	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58556309	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59667534	0.89[EUR][1000 genomes]
rs7132898	0.83[ASN][1000 genomes]
rs7302354	0.91[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303677	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304428	0.91[ASN][1000 genomes]
rs73104071	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7484942	0.91[GIH][hapmap];0.81[ASN][1000 genomes]
rs7962390	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs7962569	0.91[GIH][hapmap]
rs8181670	0.90[CEU][hapmap];0.91[GIH][hapmap];0.82[ASN][1000 genomes]
rs886589	0.84[ASN][1000 genomes]
rs9651981	0.91[GIH][hapmap];0.82[MEX][hapmap]
rs9804751	0.91[GIH][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 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	chr12:48501200-48512200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:48505200-48512000	Weak transcription	Hela-S3	cervix
3	chr12:48509200-48511600	Weak transcription	K562	blood

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