Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr1:57053852-57053910	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr1:57053840-57053990	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr1:57053844-57053943	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:57053780-57053930	HBMEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000224980	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10888981	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1418521	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17114100	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17114110	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17114113	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17114115	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17114126	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17114127	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17114133	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58146416	0.89[EUR][1000 genomes]
rs59475580	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664369	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664370	0.89[EUR][1000 genomes]
rs72664380	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664390	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72664391	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666448	0.89[EUR][1000 genomes]
rs72666498	0.89[EUR][1000 genomes]
rs72668306	0.89[EUR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv528673	chr1:57048961-57059571	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57048000-57056000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:57052200-57056200	Weak transcription	HepG2	liver
3	chr1:57052400-57054800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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