Variant report

Variant	rs2056288
Chromosome Location	chr1:221855649-221855650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221853501..221855745-chr1:221866739..221868318,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10429944	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10429945	0.99[AFR][1000 genomes]
rs10429946	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10429957	0.99[AFR][1000 genomes]
rs10429958	0.99[AFR][1000 genomes]
rs10429960	0.90[AFR][1000 genomes]
rs10429961	0.99[AFR][1000 genomes]
rs10429963	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10429964	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10863644	0.97[AFR][1000 genomes]
rs10863645	0.95[AFR][1000 genomes]
rs10863646	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11118802	0.95[AFR][1000 genomes]
rs11118807	0.94[AFR][1000 genomes]
rs11118808	0.97[AFR][1000 genomes]
rs11118809	0.97[AFR][1000 genomes]
rs11118811	0.97[AFR][1000 genomes]
rs11118812	0.99[AFR][1000 genomes]
rs11118813	0.99[AFR][1000 genomes]
rs11118814	0.99[AFR][1000 genomes]
rs11118815	0.99[AFR][1000 genomes]
rs11118816	0.99[AFR][1000 genomes]
rs11118818	0.99[AFR][1000 genomes]
rs11118819	0.99[AFR][1000 genomes]
rs11118821	0.99[AFR][1000 genomes]
rs11577594	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586610	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587933	0.99[AFR][1000 genomes]
rs11590288	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590494	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801223	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801236	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805958	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808469	0.99[AFR][1000 genomes]
rs11808503	0.99[AFR][1000 genomes]
rs11809144	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809184	0.99[AFR][1000 genomes]
rs11809818	0.94[AFR][1000 genomes]
rs11810677	1.00[ASN][1000 genomes]
rs11810697	0.99[AFR][1000 genomes]
rs11811485	0.99[AFR][1000 genomes]
rs11811644	0.99[AFR][1000 genomes]
rs12023345	0.97[AFR][1000 genomes]
rs12024440	0.99[AFR][1000 genomes]
rs12024464	0.99[AFR][1000 genomes]
rs12025878	0.99[AFR][1000 genomes]
rs12031670	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12035928	0.97[AFR][1000 genomes]
rs12036305	0.95[AFR][1000 genomes]
rs12041614	0.99[AFR][1000 genomes]
rs12042290	0.99[AFR][1000 genomes]
rs12408488	0.97[AFR][1000 genomes]
rs12408495	0.97[AFR][1000 genomes]
rs13375747	0.99[AFR][1000 genomes]
rs13375841	0.99[AFR][1000 genomes]
rs13376168	0.97[AFR][1000 genomes]
rs13376169	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376174	0.99[AFR][1000 genomes]
rs13376254	0.99[AFR][1000 genomes]
rs13376595	0.99[AFR][1000 genomes]
rs1519464	0.99[AFR][1000 genomes]
rs1519465	0.99[AFR][1000 genomes]
rs1850831	0.99[AFR][1000 genomes]
rs1914947	0.95[AFR][1000 genomes]
rs1949508	0.99[AFR][1000 genomes]
rs2056289	0.84[AFR][1000 genomes]
rs34494638	0.99[AFR][1000 genomes]
rs57852673	0.96[AFR][1000 genomes]
rs58897885	0.99[AFR][1000 genomes]
rs60436564	0.99[AFR][1000 genomes]
rs61817872	1.00[ASN][1000 genomes]
rs61817912	0.91[AFR][1000 genomes]
rs61817913	0.94[AFR][1000 genomes]
rs61817918	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817919	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817921	1.00[ASN][1000 genomes]
rs61817923	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817924	0.99[AFR][1000 genomes]
rs61817925	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817926	0.99[AFR][1000 genomes]
rs61817941	0.99[AFR][1000 genomes]
rs61817942	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817945	0.99[AFR][1000 genomes]
rs61817946	0.99[AFR][1000 genomes]
rs61817947	0.99[AFR][1000 genomes]
rs61817948	0.99[AFR][1000 genomes]
rs61817949	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817950	1.00[ASN][1000 genomes]
rs6661401	0.99[AFR][1000 genomes]
rs6686877	0.97[AFR][1000 genomes]
rs6700214	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700504	0.99[AFR][1000 genomes]
rs7355047	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7417317	0.99[AFR][1000 genomes]
rs7517462	0.88[AFR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2056288	TAF1A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221846000-221861000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:221846000-221869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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