Variant report

Variant	rs4672254
Chromosome Location	chr2:58892534-58892535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58888614..58890571-chr2:58890979..58892599,2	MCF-7	breast:
2	chr2:58890237..58893053-chr2:58893289..58896323,3	K562	blood:
3	chr2:58890762..58894483-chr2:58899743..58902902,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1014291	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1030035	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11125759	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1158041	0.85[AFR][1000 genomes]
rs1159609	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11682437	0.81[AFR][1000 genomes]
rs11693731	0.89[AFR][1000 genomes]
rs12468708	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12477030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025286	0.81[AFR][1000 genomes]
rs1861412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922779	0.85[AFR][1000 genomes]
rs1922782	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2708149	0.87[EUR][1000 genomes]
rs35881094	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4541244	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4672257	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58857776	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6724384	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6759145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs741310	0.82[AFR][1000 genomes]
rs7559954	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7561534	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572888	0.91[AFR][1000 genomes]
rs7582945	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586515	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7590946	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7591382	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7598875	0.84[AFR][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	nsv1012213	chr2:58671881-58893730	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv535736	chr2:58671881-58893730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58884600-58892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:58884600-58893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:58891400-58892600	Enhancers	Brain Germinal Matrix	brain
4	chr2:58891600-58893800	Enhancers	K562	blood
5	chr2:58892200-58893600	Weak transcription	Fetal Brain Female	brain
6	chr2:58892400-58894200	Weak transcription	HUVEC	blood vessel

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