Variant report

Variant	rs12423344
Chromosome Location	chr12:62857692-62857693
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	SETDB1	chr12:62856787-62857756	U2OS	brain:	n/a	n/a
2	KAP1	chr12:62856430-62857856	K562	blood:	n/a	n/a
3	SETDB1	chr12:62856450-62857940	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62856690..62858608-chr12:62859870..62862415,2	MCF-7	breast:

Variant related genes	Relation type
MON2	TF binding region
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506442	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10506443	0.89[ASN][1000 genomes]
rs11614276	0.83[ASN][1000 genomes]
rs12146793	0.89[ASN][1000 genomes]
rs12371458	0.87[ASN][1000 genomes]
rs12424006	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12427111	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17097966	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17098038	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17120341	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1982991	0.87[ASN][1000 genomes]
rs4763172	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4763173	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763176	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57715507	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59191400	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61556144	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61919478	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61919479	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61919485	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61921903	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61921904	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61921905	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61921908	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61921909	0.89[ASN][1000 genomes]
rs61921910	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61921911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61921913	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61921914	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7136696	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7307786	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7309338	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7316437	0.90[EUR][1000 genomes]
rs73323255	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7958721	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7964791	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7965328	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7969992	0.88[EUR][1000 genomes];0.90[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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62853600-62860000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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