Variant report

Variant	rs12292248
Chromosome Location	chr11:58428417-58428418
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	chr11:58420038..58422147-chr11:58426346..58428518,2	K562	blood:

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

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

rs_ID	r²[population]
rs10750899	1.00[EUR][1000 genomes]
rs10750900	1.00[EUR][1000 genomes]
rs11827157	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277283	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1802347	1.00[EUR][1000 genomes]
rs1944053	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2507759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509917	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2509921	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509929	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2510549	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2510551	0.84[EUR][1000 genomes]
rs2510556	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2510558	1.00[EUR][1000 genomes]
rs2510862	1.00[EUR][1000 genomes]
rs2510863	0.84[EUR][1000 genomes]
rs2515348	1.00[EUR][1000 genomes]
rs2515349	1.00[EUR][1000 genomes]
rs2515358	1.00[EUR][1000 genomes]
rs2515360	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2515361	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2515372	1.00[EUR][1000 genomes]
rs55867213	1.00[EUR][1000 genomes]
rs55952041	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56233432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6591480	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7358405	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928565	1.00[EUR][1000 genomes]
rs7930253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1050444	chr11:58404467-58434568	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr11:58426000-58429000	Enhancers	Fetal Intestine Large	intestine

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