Variant report

Variant	rs72930139
Chromosome Location	chr11:63253493-63253494
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12419465	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17158357	0.89[EUR][1000 genomes]
rs17158378	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17158380	1.00[EUR][1000 genomes]
rs17728785	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2849652	0.93[EUR][1000 genomes]
rs2849654	0.82[EUR][1000 genomes]
rs57210597	0.93[EUR][1000 genomes]
rs60911257	0.82[EUR][1000 genomes]
rs61929668	0.85[EUR][1000 genomes]
rs61929669	0.89[EUR][1000 genomes]
rs61929693	0.93[EUR][1000 genomes]
rs61929695	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61929696	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61929697	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7115686	0.93[EUR][1000 genomes]
rs7123815	0.96[EUR][1000 genomes]
rs7932642	0.82[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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468588	chr11:63233363-63320239	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv555179	chr11:63233363-63320239	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv972926	chr11:63235663-63258845	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3364622	chr11:63247425-63274716	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63249800-63254000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:63252600-63254000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr11:63252800-63254200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:63253400-63254000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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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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