Variant report

Variant	rs7594781
Chromosome Location	chr2:234227113-234227114
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234226679..234228246-chr2:234234524..234237366,2	K562	blood:

Variant related genes	Relation type
ENSG00000130561	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1000548	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11679064	0.94[ASN][1000 genomes]
rs11890330	0.94[ASN][1000 genomes]
rs11890449	0.94[ASN][1000 genomes]
rs2304775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792099	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792101	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3828308	0.81[ASN][1000 genomes]
rs55754152	0.94[ASN][1000 genomes]
rs55895356	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56242862	0.94[ASN][1000 genomes]
rs59303693	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719241	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6748547	0.87[ASN][1000 genomes]
rs72976324	0.94[ASN][1000 genomes]
rs72976366	0.94[ASN][1000 genomes]
rs72978306	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72978311	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72978313	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72978315	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72978317	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7564805	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7565275	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7578402	0.94[ASN][1000 genomes]
rs7583380	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7594365	0.94[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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:234222200-234230200	Weak transcription	GM12878-XiMat	blood
2	chr2:234222600-234229800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:234223600-234245400	Weak transcription	Pancreas	Pancrea
4	chr2:234226000-234227600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:234226800-234228600	Weak transcription	Fetal Brain Male	brain

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