Variant report

Variant	rs12991457
Chromosome Location	chr2:56212270-56212271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:56212218-56212502	HepG2	liver:	n/a	chr2:56212360-56212371
2	CEBPB	chr2:56211913-56212486	A549	lung:	n/a	chr2:56212360-56212371
3	POLR2A	chr2:56211807-56214699	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56210378..56212902-chr2:56214953..56217834,2	K562	blood:

Variant related genes	Relation type
MIR217	TF binding region
ENSG00000207798	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10171335	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194204	1.00[ASN][1000 genomes]
rs10194401	1.00[ASN][1000 genomes]
rs10200414	1.00[ASN][1000 genomes]
rs10206522	1.00[ASN][1000 genomes]
rs10206619	1.00[ASN][1000 genomes]
rs10210936	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686318	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693755	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713312	1.00[ASN][1000 genomes]
rs12713313	1.00[ASN][1000 genomes]
rs12713314	1.00[ASN][1000 genomes]
rs13029542	0.94[ASN][1000 genomes]
rs13398053	1.00[ASN][1000 genomes]
rs13399945	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410155	1.00[ASN][1000 genomes]
rs13431392	1.00[ASN][1000 genomes]
rs13432828	1.00[ASN][1000 genomes]
rs1347093	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835897	1.00[ASN][1000 genomes]
rs2868992	1.00[ASN][1000 genomes]
rs34561537	1.00[ASN][1000 genomes]
rs4553860	1.00[ASN][1000 genomes]
rs6545539	0.94[ASN][1000 genomes]
rs6724635	1.00[ASN][1000 genomes]
rs6724872	1.00[ASN][1000 genomes]
rs6741589	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745615	1.00[ASN][1000 genomes]
rs6756818	1.00[ASN][1000 genomes]
rs7557630	1.00[ASN][1000 genomes]
rs7587002	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597360	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601814	1.00[ASN][1000 genomes]
rs9967780	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56194000-56216200	Weak transcription	Pancreas	Pancrea
2	chr2:56211800-56213400	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:56211800-56215000	Flanking Active TSS	HUVEC	blood vessel
4	chr2:56212200-56212400	Enhancers	GM12878-XiMat	blood
5	chr2:56212200-56213200	Enhancers	Primary monocytes fromperipheralblood	blood

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