Variant report

Variant	rs60956160
Chromosome Location	chr1:171741801-171741802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171710019..171713750-chr1:171741617..171744862,3	K562	blood:
2	chr1:171709564..171713750-chr1:171736602..171743117,7	K562	blood:
3	chr1:171738793..171742009-chr1:171745293..171748243,3	K562	blood:

Variant related genes	Relation type
ENSG00000117533	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10798634	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798636	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913644	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11587288	0.87[EUR][1000 genomes]
rs12028128	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12032340	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12034454	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12039034	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12566700	0.85[ASN][1000 genomes]
rs16843385	0.82[EUR][1000 genomes]
rs2232812	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232816	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232818	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232826	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2294717	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3753538	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56178029	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59302445	0.86[EUR][1000 genomes]
rs60502293	0.84[EUR][1000 genomes]
rs6425405	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425423	0.87[EUR][1000 genomes]
rs6684594	0.88[EUR][1000 genomes]
rs6692136	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6695502	0.87[EUR][1000 genomes]
rs7541192	0.87[EUR][1000 genomes]
rs7542116	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7543608	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7548462	0.87[EUR][1000 genomes]
rs7551037	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7860	0.95[EUR][1000 genomes]
rs909958	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs941942	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60956160	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171739400-171744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:171741400-171742400	Enhancers	Primary B cells from cord blood	blood
4	chr1:171741600-171742000	Enhancers	GM12878-XiMat	blood
5	chr1:171741600-171742400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:171741600-171742600	Enhancers	Primary monocytes fromperipheralblood	blood

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