Variant report

Variant	rs10069051
Chromosome Location	chr5:2094355-2094356
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:36)

rs_ID	r²[population]
rs10039186	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10039370	0.94[EUR][1000 genomes]
rs10041106	0.89[EUR][1000 genomes]
rs10043989	0.89[EUR][1000 genomes]
rs10056211	0.91[EUR][1000 genomes]
rs10060649	0.94[EUR][1000 genomes]
rs10062782	0.90[EUR][1000 genomes]
rs10063808	0.94[EUR][1000 genomes]
rs10066240	0.94[EUR][1000 genomes]
rs10066385	0.94[EUR][1000 genomes]
rs10068233	0.94[EUR][1000 genomes]
rs10068847	0.94[EUR][1000 genomes]
rs10069104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070853	0.89[EUR][1000 genomes]
rs10073733	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10075502	0.94[EUR][1000 genomes]
rs10076573	0.90[AFR][1000 genomes]
rs10428571	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11741616	0.94[EUR][1000 genomes]
rs11741646	0.94[EUR][1000 genomes]
rs13354874	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13355387	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357993	0.94[EUR][1000 genomes]
rs13357995	0.94[EUR][1000 genomes]
rs13358051	0.91[EUR][1000 genomes]
rs13358958	0.92[EUR][1000 genomes]
rs13359444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360716	0.88[EUR][1000 genomes]
rs13362263	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28702040	1.00[EUR][1000 genomes]
rs57862430	0.94[EUR][1000 genomes]
rs61659441	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62327939	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62329475	0.88[EUR][1000 genomes]
rs62329476	0.89[EUR][1000 genomes]
rs73732562	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1020211	chr5:2045699-2104887	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2088200-2097000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:2092000-2095000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:2092200-2094400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:2092400-2094400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:2093600-2094600	Enhancers	Esophagus	oesophagus
6	chr5:2093600-2094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:2094000-2094400	Enhancers	Hela-S3	cervix
8	chr5:2094000-2094600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:2094200-2094400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:2094200-2094400	Enhancers	Stomach Smooth Muscle	stomach
11	chr5:2094200-2094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:2094200-2094600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:2094200-2094600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr5:2094200-2095200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:2094200-2095200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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