Variant report

Variant	rs560518
Chromosome Location	chr11:56617544-56617545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1632579	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783436	0.86[EUR][1000 genomes]
rs1789009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792503	0.90[CEU][hapmap];0.82[JPT][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs475409	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs486630	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs489338	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs491574	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs500127	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs513995	1.00[CEU][hapmap]
rs520567	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs521962	1.00[ASN][1000 genomes]
rs533664	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs534606	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs544054	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs545081	1.00[CEU][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap]
rs550500	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs552409	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs563638	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs576487	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs580006	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs585986	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs586002	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs599917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs624662	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs639823	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs682143	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048328	chr11:56471984-56649908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv2830406	chr11:56481955-56650124	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv469960	chr11:56605222-56704042	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56613200-56618400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:56613600-56617800	Enhancers	HMEC	breast
3	chr11:56614400-56621400	Weak transcription	Stomach Mucosa	stomach
4	chr11:56616200-56618800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:56616400-56617600	Enhancers	NHEK	skin
6	chr11:56616400-56617800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:56616800-56617800	Enhancers	A549	lung
8	chr11:56617200-56617600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:56617400-56617600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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