Variant report

Variant	rs6850521
Chromosome Location	chr4:160480429-160480430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10018111	0.81[ASN][1000 genomes]
rs10034767	0.81[ASN][1000 genomes]
rs10440449	0.81[ASN][1000 genomes]
rs11100237	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12186282	0.97[ASN][1000 genomes]
rs12506701	0.97[ASN][1000 genomes]
rs13146333	0.97[ASN][1000 genomes]
rs1502726	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1566700	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1604582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604583	1.00[ASN][1000 genomes]
rs1893952	0.93[ASN][1000 genomes]
rs2088984	0.81[ASN][1000 genomes]
rs2102181	0.83[ASN][1000 genomes]
rs2134422	0.97[ASN][1000 genomes]
rs2174060	0.89[ASN][1000 genomes]
rs2348412	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348413	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348414	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28589990	0.87[ASN][1000 genomes]
rs2881908	0.99[ASN][1000 genomes]
rs34436280	0.89[ASN][1000 genomes]
rs4264787	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339163	0.81[ASN][1000 genomes]
rs4493488	0.81[ASN][1000 genomes]
rs4607168	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4691576	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4691577	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6536441	0.93[ASN][1000 genomes]
rs6536442	0.81[ASN][1000 genomes]
rs67023307	0.93[ASN][1000 genomes]
rs6823356	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6835551	0.93[ASN][1000 genomes]
rs6848958	0.97[ASN][1000 genomes]
rs6851325	0.97[ASN][1000 genomes]
rs6856295	0.81[ASN][1000 genomes]
rs6858329	0.97[ASN][1000 genomes]
rs71609049	0.97[ASN][1000 genomes]
rs9307991	0.97[ASN][1000 genomes]
rs998885	0.99[ASN][1000 genomes]
rs998886	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9992703	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9995801	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015469	chr4:160389277-160841619	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537316	chr4:160389277-160841619	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6850521	TKTL2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160479400-160480600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:160479600-160506800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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