Variant report

Variant	rs554311
Chromosome Location	chr11:59852569-59852570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1151065	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1151103	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1151104	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1151105	0.83[EUR][1000 genomes]
rs1286162	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1286169	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1286171	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1286289	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1296390	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3016834	0.94[EUR][1000 genomes]
rs3016835	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3016836	0.90[EUR][1000 genomes]
rs471457	0.94[EUR][1000 genomes]
rs474951	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs501697	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs501945	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs525828	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs528823	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs536531	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs539360	0.96[EUR][1000 genomes]
rs543695	0.83[EUR][1000 genomes]
rs549651	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs549680	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs558678	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs558788	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs560238	0.81[EUR][1000 genomes]
rs579721	0.87[AMR][1000 genomes];0.96[EUR][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	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv972036	chr11:59845745-59853677	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59851800-59852800	Enhancers	Fetal Brain Male	brain
2	chr11:59852000-59853400	Enhancers	K562	blood
3	chr11:59852200-59852800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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