Variant report

Variant	rs12194437
Chromosome Location	chr6:146411440-146411441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10223508	0.80[EUR][1000 genomes]
rs10457792	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10457793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10457795	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062067	0.82[AMR][1000 genomes]
rs1062068	0.82[AMR][1000 genomes]
rs10872582	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10872583	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11155452	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755334	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11760	0.82[AMR][1000 genomes]
rs13198450	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13204280	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1331636	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1331637	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1331639	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1331643	0.87[EUR][1000 genomes]
rs1331645	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1412081	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1474871	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2073287	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2144477	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2144478	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2207785	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2224120	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2224121	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2243665	0.80[AMR][1000 genomes]
rs2247429	0.82[AMR][1000 genomes]
rs2247666	0.82[AMR][1000 genomes]
rs2250387	0.82[AMR][1000 genomes]
rs2254257	0.80[AMR][1000 genomes]
rs2254283	0.83[AMR][1000 genomes]
rs2256998	0.82[AMR][1000 genomes]
rs2265469	0.82[AMR][1000 genomes]
rs2265472	0.82[AMR][1000 genomes]
rs2265917	0.82[AMR][1000 genomes]
rs2265918	0.82[AMR][1000 genomes]
rs2265919	0.82[AMR][1000 genomes]
rs2328712	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2474356	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2492855	0.87[EUR][1000 genomes]
rs2748482	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2748483	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2748484	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2748485	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2748486	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2748487	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2748499	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2748500	0.81[EUR][1000 genomes]
rs2748502	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2777476	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2777477	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2777484	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2814866	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2814867	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2814869	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814874	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814875	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814876	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814877	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814880	0.82[AMR][1000 genomes]
rs2892453	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3923579	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3924498	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3924499	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3924502	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4075694	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4280983	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4314514	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4360151	0.80[EUR][1000 genomes]
rs4391282	0.81[EUR][1000 genomes]
rs4435956	0.82[AMR][1000 genomes]
rs4566902	0.82[AMR][1000 genomes]
rs4896852	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56181683	0.87[EUR][1000 genomes]
rs6570736	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6570738	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6908063	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6910790	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6913797	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6914813	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6917482	0.82[AMR][1000 genomes]
rs6922507	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6923545	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6924159	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6926076	0.82[AMR][1000 genomes]
rs6926657	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6930975	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6934467	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6938972	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739418	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7747576	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7753092	0.81[ASN][1000 genomes]
rs7753696	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7755440	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs854145	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs864390	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs866473	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322043	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322046	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9322047	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9322048	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs932522	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373485	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9376971	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9376975	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9386141	0.81[EUR][1000 genomes]
rs9390365	0.82[AMR][1000 genomes]
rs9390377	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399571	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9399573	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9403755	0.82[AMR][1000 genomes]
rs9403756	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9403757	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9403764	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403765	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9403767	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403768	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9497431	0.81[ASN][1000 genomes]
rs9497434	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9497435	0.81[EUR][1000 genomes]
rs969694	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9791313	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604839	chr6:146305810-146828922	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12194437	RP11-545I5.3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146410400-146414200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:146410400-146414400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:146411400-146412000	Enhancers	NH-A	brain
4	chr6:146411400-146412200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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