Variant report

Variant	rs6106685
Chromosome Location	chr20:23581612-23581613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1010117	0.85[EUR][1000 genomes]
rs1011226	0.89[EUR][1000 genomes]
rs1158167	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12624424	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12625182	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12625716	0.87[EUR][1000 genomes]
rs12710327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13037490	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13038305	0.85[EUR][1000 genomes]
rs13038337	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13038990	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13039536	0.85[EUR][1000 genomes]
rs13040663	0.81[EUR][1000 genomes]
rs13043266	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13043610	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1555355	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17751897	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2067488	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2208289	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405392	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28703706	0.89[EUR][1000 genomes]
rs3004139	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3004145	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088162	0.86[EUR][1000 genomes]
rs34374560	0.85[EUR][1000 genomes]
rs34792920	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911568	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35573837	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35782710	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3787499	0.80[EUR][1000 genomes]
rs3810575	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4346460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4815222	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4815223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4815224	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55897275	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56077567	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56371840	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56388902	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57549987	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59059917	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6036461	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6036463	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036465	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6036469	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6036470	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6036471	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6036474	0.89[EUR][1000 genomes]
rs6036476	0.85[EUR][1000 genomes]
rs6036478	0.85[EUR][1000 genomes]
rs6048920	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048922	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048923	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048924	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048925	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048926	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048928	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048929	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048933	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6048936	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048937	0.81[EUR][1000 genomes]
rs6048939	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6048941	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6048945	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048946	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048949	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048950	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048952	0.87[EUR][1000 genomes]
rs6048956	0.85[EUR][1000 genomes]
rs61035931	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6114201	0.87[EUR][1000 genomes]
rs6114206	0.85[EUR][1000 genomes]
rs6515375	0.85[EUR][1000 genomes]
rs67997662	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7265178	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7270413	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs734801	0.83[EUR][1000 genomes]
rs8114619	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8115417	0.89[EUR][1000 genomes]
rs8115423	0.89[EUR][1000 genomes]
rs8116859	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8121147	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8121283	0.89[EUR][1000 genomes]
rs8121405	0.89[EUR][1000 genomes]
rs911119	0.84[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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6106685	CST3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23579000-23582400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:23580200-23582400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:23581600-23581800	Enhancers	Placenta	Placenta
4	chr20:23581600-23584600	Enhancers	Fetal Thymus	thymus

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