Variant report

Variant	rs58385517
Chromosome Location	chr4:101008934-101008935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10516461	0.84[EUR][1000 genomes]
rs11097687	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11723477	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11732182	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11735694	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736719	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736750	0.80[ASN][1000 genomes]
rs11932845	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11935767	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11936580	0.80[ASN][1000 genomes]
rs11937848	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940617	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11942532	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944693	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11947412	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029724	0.82[ASN][1000 genomes]
rs36109329	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343735	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4492010	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888547	0.82[ASN][1000 genomes]
rs56159765	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311063	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57253200	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57315614	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60070547	0.82[ASN][1000 genomes]
rs60524451	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61351569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62306101	0.80[ASN][1000 genomes]
rs6532839	0.82[ASN][1000 genomes]
rs6532840	0.82[ASN][1000 genomes]
rs6532841	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532842	1.00[ASN][1000 genomes]
rs66686535	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66775689	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66903712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67560461	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67594720	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67973788	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6813794	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824513	0.80[ASN][1000 genomes]
rs6825579	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830286	1.00[ASN][1000 genomes]
rs6834448	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6834813	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836304	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6839278	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6842492	0.96[ASN][1000 genomes]
rs6858035	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72686215	0.80[ASN][1000 genomes]
rs7340772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340886	1.00[ASN][1000 genomes]
rs7660185	0.80[ASN][1000 genomes]
rs7660479	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7662195	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665301	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668076	1.00[ASN][1000 genomes]
rs7676597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687287	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942267	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9942269	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830018	chr4:100977238-101027920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100997000-101009000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:101006600-101009800	Enhancers	Placenta	Placenta
3	chr4:101006800-101009000	Weak transcription	Right Atrium	heart
4	chr4:101007800-101009000	Enhancers	NHDF-Ad	bronchial
5	chr4:101007800-101009200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:101007800-101028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:101008000-101009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:101008000-101009000	Enhancers	NHEK	skin
9	chr4:101008200-101009000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:101008200-101009000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:101008200-101009200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:101008200-101009800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:101008400-101009000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:101008400-101009200	Enhancers	Fetal Stomach	stomach
15	chr4:101008600-101009200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:101008600-101009600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:101008600-101009600	Enhancers	Adipose Nuclei	Adipose
18	chr4:101008600-101014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:101008600-101014200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:101008600-101017800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:101008800-101009000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:101008800-101014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:101008800-101014200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:101008800-101014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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