Variant report

Variant	rs12317394
Chromosome Location	chr12:41672853-41672854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11180505	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs11180506	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs11180507	0.95[EUR][1000 genomes]
rs11180557	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11180566	0.84[AFR][1000 genomes]
rs11180567	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11180586	1.00[JPT][hapmap]
rs11180587	1.00[JPT][hapmap]
rs11180590	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11180626	1.00[JPT][hapmap]
rs11180646	1.00[JPT][hapmap]
rs11180853	1.00[JPT][hapmap]
rs11180882	1.00[JPT][hapmap]
rs12296962	1.00[JPT][hapmap]
rs12297322	1.00[JPT][hapmap]
rs12297913	0.95[EUR][1000 genomes]
rs12300590	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12300840	1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs12300884	0.81[AFR][1000 genomes]
rs12300953	1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs12302094	1.00[JPT][hapmap];0.95[YRI][hapmap]
rs12305125	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12305252	0.95[GIH][hapmap];1.00[JPT][hapmap]
rs12306167	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12306457	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307881	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs12307937	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12310793	1.00[JPT][hapmap]
rs12312488	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12314080	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs12315362	1.00[JPT][hapmap]
rs12315979	1.00[JPT][hapmap]
rs12319787	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427081	1.00[JPT][hapmap]
rs1367606	1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes]
rs1431125	1.00[ASW][hapmap];1.00[GIH][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs1431126	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1589983	1.00[JPT][hapmap]
rs17129177	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17129178	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs17129202	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17129211	1.00[JPT][hapmap]
rs1918231	1.00[JPT][hapmap]
rs2082222	1.00[JPT][hapmap]
rs2217492	1.00[JPT][hapmap]
rs3858730	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4768004	1.00[JPT][hapmap]
rs6582291	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67467631	0.84[EUR][1000 genomes]
rs73270806	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73270807	0.95[EUR][1000 genomes]
rs73270809	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7486754	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961749	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41671200-41684600	Weak transcription	Ovary	ovary
2	chr12:41671400-41674200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:41671800-41680200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41672800-41673000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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