Variant report

Variant	rs9967780
Chromosome Location	chr2:56234942-56234943
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56234512..56236770-chr2:56238872..56240573,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10171335	0.94[AMR][1000 genomes];0.96[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	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686318	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693755	0.82[AMR][1000 genomes];0.93[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]
rs12991457	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029542	0.94[ASN][1000 genomes]
rs13398053	1.00[ASN][1000 genomes]
rs13399945	0.95[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	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835897	1.00[ASN][1000 genomes]
rs2868992	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];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	0.81[AMR][1000 genomes];0.94[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	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601814	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv520175	chr2:56228351-56331375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56230200-56235400	Weak transcription	Fetal Stomach	stomach
2	chr2:56231200-56235800	Weak transcription	Fetal Brain Male	brain
3	chr2:56232600-56235800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:56234800-56242800	Enhancers	HUVEC	blood vessel

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