Variant report

Variant	rs7479050
Chromosome Location	chr11:120154801-120154802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10750170	0.92[ASN][1000 genomes]
rs10790373	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10790374	0.96[ASN][1000 genomes]
rs11217785	0.94[ASN][1000 genomes]
rs11217787	0.97[ASN][1000 genomes]
rs11217793	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11217796	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2155810	0.92[ASN][1000 genomes]
rs2155811	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4245211	0.95[ASN][1000 genomes]
rs4936512	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936513	0.96[ASN][1000 genomes]
rs56966127	0.90[ASN][1000 genomes]
rs6589805	0.92[ASN][1000 genomes]
rs7111185	0.92[ASN][1000 genomes]
rs7120237	0.92[ASN][1000 genomes]
rs73578248	0.92[ASN][1000 genomes]
rs7951628	0.92[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr11:120152000-120159600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:120152600-120155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120152800-120155800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:120153000-120155000	Weak transcription	Right Atrium	heart
5	chr11:120154200-120160200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:120154800-120155200	Enhancers	Lung	lung

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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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