Variant report

Variant	rs1701088
Chromosome Location	chr12:44528103-44528104
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10047523	0.95[ASN][1000 genomes]
rs1032886	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880622	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880623	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880628	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182417	0.94[ASN][1000 genomes]
rs11182423	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182430	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182431	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182432	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182442	0.95[ASN][1000 genomes]
rs11182455	0.92[ASN][1000 genomes]
rs1155808	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11613902	0.86[EUR][1000 genomes]
rs11615473	0.95[ASN][1000 genomes]
rs1168078	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832219	0.92[ASN][1000 genomes]
rs11832859	0.98[ASN][1000 genomes]
rs11834667	0.86[EUR][1000 genomes]
rs11835507	0.95[ASN][1000 genomes]
rs12099982	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12297689	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12297754	0.95[ASN][1000 genomes]
rs12297933	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12299030	0.92[ASN][1000 genomes]
rs12299937	0.95[ASN][1000 genomes]
rs12300793	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307454	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12308449	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12308508	0.82[EUR][1000 genomes]
rs12308569	0.95[ASN][1000 genomes]
rs12309639	0.92[ASN][1000 genomes]
rs12315961	0.86[EUR][1000 genomes]
rs12319009	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1352935	0.84[EUR][1000 genomes]
rs1643429	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1643431	0.92[ASN][1000 genomes]
rs17094063	0.84[EUR][1000 genomes]
rs17094092	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094117	0.83[EUR][1000 genomes]
rs17094183	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17094227	0.93[ASN][1000 genomes]
rs17094231	0.84[ASN][1000 genomes]
rs17094235	0.95[ASN][1000 genomes]
rs17121310	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2062954	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112147	0.95[ASN][1000 genomes]
rs2174508	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638853	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2638855	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2657576	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2657577	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28538835	0.81[EUR][1000 genomes]
rs57907832	0.95[ASN][1000 genomes]
rs59375742	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59628873	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61690882	0.95[ASN][1000 genomes]
rs6582498	0.84[EUR][1000 genomes]
rs66970043	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67184817	0.95[ASN][1000 genomes]
rs67713366	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68049983	0.86[EUR][1000 genomes]
rs7137469	0.92[ASN][1000 genomes]
rs7295281	0.82[ASN][1000 genomes]
rs7295832	0.95[ASN][1000 genomes]
rs7297563	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7306647	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7312930	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313269	0.95[ASN][1000 genomes]
rs7315208	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7316737	0.95[ASN][1000 genomes]
rs73288050	0.86[EUR][1000 genomes]
rs7961974	0.95[ASN][1000 genomes]
rs7967957	0.84[EUR][1000 genomes]
rs7969885	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971340	0.82[EUR][1000 genomes]
rs7976652	0.92[ASN][1000 genomes]
rs7977482	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980383	0.86[EUR][1000 genomes]
rs963095	0.85[EUR][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	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
2	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
3	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:44510800-44531400	Weak transcription	Psoas Muscle	Psoas
2	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44522000-44534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44522400-44545200	Weak transcription	HSMMtube	muscle
5	chr12:44528000-44528200	Enhancers	Left Ventricle	heart

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