Variant report

Variant	rs2342991
Chromosome Location	chr5:61325806-61325807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10058486	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10062059	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10214027	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13175940	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13177362	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13178972	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180268	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1445884	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1445886	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1816097	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1816098	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820157	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1820159	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1833868	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1833871	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862587	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1972650	0.83[EUR][1000 genomes]
rs1972651	0.83[EUR][1000 genomes]
rs2032875	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2032876	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100035	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2166371	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2342990	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3843448	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4235489	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4273561	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4301180	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4407583	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4470716	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699996	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699997	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4699999	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4700454	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700455	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4700456	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4700457	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4700463	0.83[EUR][1000 genomes]
rs4700465	0.96[ASN][1000 genomes]
rs6449573	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449577	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869741	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6874917	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6896815	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7712508	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7726251	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7734412	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7736993	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs867492	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs889275	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs918616	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9291745	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs968159	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9885479	0.84[EUR][1000 genomes];0.96[ASN][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	nsv1020693	chr5:61098865-61357032	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv881725	chr5:61265820-61376320	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv508363	chr5:61287078-61362885	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830317	chr5:61298840-61478113	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61324400-61326800	Enhancers	HMEC	breast
2	chr5:61324400-61327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61324600-61326800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:61324600-61326800	Enhancers	NHEK	skin
5	chr5:61324800-61326800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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