Variant report

Variant	rs1792498
Chromosome Location	chr11:56657149-56657150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12419314	0.97[ASN][1000 genomes]
rs1613887	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1632332	0.97[ASN][1000 genomes]
rs17640885	0.81[ASN][1000 genomes]
rs1783444	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783445	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783446	1.00[ASN][1000 genomes]
rs1783447	1.00[ASN][1000 genomes]
rs1783450	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1783451	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783459	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783465	1.00[ASN][1000 genomes]
rs1792494	1.00[ASN][1000 genomes]
rs1792495	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792496	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792499	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792500	0.97[ASN][1000 genomes]
rs1892787	1.00[ASN][1000 genomes]
rs1938751	0.97[ASN][1000 genomes]
rs1938759	0.81[ASN][1000 genomes]
rs1938760	0.81[ASN][1000 genomes]
rs2226850	0.97[ASN][1000 genomes]
rs2226851	0.97[ASN][1000 genomes]
rs2374	1.00[ASN][1000 genomes]
rs4939095	0.97[ASN][1000 genomes]
rs4939097	0.97[ASN][1000 genomes]
rs523098	1.00[ASN][1000 genomes]
rs551339	0.90[AFR][1000 genomes]
rs56210588	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677946	0.88[AFR][1000 genomes]
rs68039795	0.81[ASN][1000 genomes]
rs684115	0.89[AFR][1000 genomes]
rs7111113	0.82[ASN][1000 genomes]
rs7118645	0.81[ASN][1000 genomes]
rs737368	0.81[ASN][1000 genomes]
rs7930832	0.97[ASN][1000 genomes]
rs7947879	0.81[ASN][1000 genomes]
rs947805	0.81[ASN][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	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
2	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
3	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
4	nsv1045889	chr11:56624365-56737435	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56653200-56657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:56653200-56657400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:56654600-56657200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:56654800-56657600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:56655000-56658600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:56655600-56657800	Enhancers	A549	lung
7	chr11:56657000-56657400	Weak transcription	NHEK	skin

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