Variant report

Variant	rs12813575
Chromosome Location	chr12:10429061-10429062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10743881	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845099	0.81[EUR][1000 genomes]
rs10845104	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053701	0.86[ASN][1000 genomes]
rs11053722	0.97[EUR][1000 genomes]
rs11612335	0.87[ASN][1000 genomes]
rs12302171	0.83[ASN][1000 genomes]
rs12303774	0.86[ASN][1000 genomes]
rs12304713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311695	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12315681	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814085	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12817905	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818742	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12821332	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12824930	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12828163	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12828540	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829898	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12831232	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12832221	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12832489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206564	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2537765	0.84[ASN][1000 genomes]
rs2537793	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537805	0.90[ASN][1000 genomes]
rs2617128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617135	0.97[EUR][1000 genomes]
rs2617137	0.97[EUR][1000 genomes]
rs2927558	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34282122	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34790670	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859528	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34956502	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35510688	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35518026	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35868193	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346056	0.85[ASN][1000 genomes]
rs4365134	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4764369	0.98[EUR][1000 genomes]
rs56272210	0.98[ASN][1000 genomes]
rs58700703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136409	0.80[EUR][1000 genomes]
rs71450031	0.85[ASN][1000 genomes]
rs71450032	0.85[ASN][1000 genomes]
rs71450033	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71450034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765792	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7958472	0.97[EUR][1000 genomes]
rs7963011	0.86[ASN][1000 genomes]
rs7969664	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv557454	chr12:10417260-10440885	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr12:10398800-10436200	Weak transcription	Placenta	Placenta
2	chr12:10429000-10429400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10429000-10442000	Weak transcription	Left Ventricle	heart

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