Variant report

Variant	rs72680989
Chromosome Location	chr4:120674169-120674170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10004865	0.97[ASN][1000 genomes]
rs11098535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11098536	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11098537	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17005547	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17005814	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55922435	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56085109	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs56199127	0.96[EUR][1000 genomes]
rs56296554	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56324051	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72678594	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72678595	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678596	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678597	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678599	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678601	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678602	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72680932	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680933	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680934	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680935	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680936	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680937	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680938	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680941	0.96[EUR][1000 genomes]
rs72680944	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680945	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680951	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72680952	0.82[AMR][1000 genomes]
rs72680953	0.96[EUR][1000 genomes]
rs72680958	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680959	0.96[EUR][1000 genomes]
rs72680962	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680964	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72680965	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72680967	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72680968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680969	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72680972	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680974	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72680975	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680976	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72680978	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72680980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680995	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72681002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72682804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72682805	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72682807	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7659472	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7682717	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv966541	chr4:120671470-120702965	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3344126	chr4:120674104-120678402	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120672200-120676800	Weak transcription	Fetal Heart	heart
2	chr4:120672400-120677400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:120672800-120676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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