Variant report

Variant	rs941942
Chromosome Location	chr1:171744722-171744723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171742868..171745559-chr1:171748625..171751508,3	MCF-7	breast:
2	chr1:171738793..171741623-chr1:171744714..171746793,2	K562	blood:
3	chr1:171738743..171740462-chr1:171742324..171745005,2	K562	blood:
4	chr1:171710019..171713750-chr1:171741617..171744862,3	K562	blood:
5	chr1:171742778..171746827-chr1:171748449..171752347,7	K562	blood:

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction
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	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10798636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913644	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11587288	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs12028128	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12032340	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12034454	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12039034	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12566700	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs16843385	0.81[EUR][1000 genomes]
rs2232812	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232816	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232818	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232826	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2294717	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3753538	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56178029	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59302445	0.85[EUR][1000 genomes]
rs60502293	0.83[EUR][1000 genomes]
rs60956160	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425405	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6425423	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs6684594	0.87[EUR][1000 genomes]
rs6692136	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6695502	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs7541192	0.86[EUR][1000 genomes]
rs7542116	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7543608	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7548462	0.86[EUR][1000 genomes]
rs7551037	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7860	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs909958	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[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	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
rs941942	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:171744400-171745400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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