Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10065303	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10452450	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12109774	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16889167	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17720871	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17721133	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17721311	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17721564	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17777280	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17777617	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55801062	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56407743	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356680	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356683	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356684	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356686	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356687	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62356691	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356692	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356694	0.84[EUR][1000 genomes]
rs6898082	0.82[EUR][1000 genomes]
rs950446	0.82[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58376400-58388200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:58376400-58389200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58376400-58390400	Weak transcription	Hela-S3	cervix
4	chr5:58378200-58391800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:58384400-58387800	Weak transcription	NHEK	skin
6	chr5:58385600-58387800	Enhancers	Fetal Lung	lung
7	chr5:58386000-58387600	Flanking Active TSS	A549	lung
8	chr5:58386200-58388400	Enhancers	Colon Smooth Muscle	Colon
9	chr5:58386400-58390200	Weak transcription	Fetal Brain Male	brain
10	chr5:58386400-58391000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:58386600-58388400	Weak transcription	Fetal Kidney	kidney
12	chr5:58387200-58387600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:58387200-58388400	Weak transcription	Fetal Heart	heart
14	chr5:58387200-58388600	Weak transcription	Small Intestine	intestine

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