Variant report

Variant	rs12296857
Chromosome Location	chr12:44419592-44419593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10736018	0.93[EUR][1000 genomes]
rs10785492	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10880608	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10880616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880618	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182375	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11182384	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182385	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182396	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11182402	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182404	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182405	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12099769	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12230287	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12301507	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12313365	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1565620	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1701083	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17094007	1.00[MEX][hapmap];0.80[TSI][hapmap]
rs17094013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976211	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2407788	1.00[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs3929354	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55756710	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56198335	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56227915	0.80[AMR][1000 genomes]
rs56337317	0.80[AMR][1000 genomes]
rs6582494	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582495	1.00[CHB][hapmap]
rs7136217	1.00[MEX][hapmap]
rs7303909	1.00[MEX][hapmap]
rs73087684	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73087700	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73089723	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73089727	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73091745	0.80[AMR][1000 genomes]
rs7312422	1.00[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs7959226	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7980005	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs842194	1.00[JPT][hapmap]
rs9919676	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9919742	1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes]

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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44417000-44422600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44418200-44420000	Enhancers	Fetal Brain Male	brain

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