Variant report

Variant	rs72648553
Chromosome Location	chr8:61374546-61374547
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs16918852	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16926111	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16926133	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926137	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926155	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926208	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926270	0.90[ASN][1000 genomes]
rs16926284	0.85[ASN][1000 genomes]
rs16926294	0.85[ASN][1000 genomes]
rs16926324	0.83[ASN][1000 genomes]
rs16926354	0.81[ASN][1000 genomes]
rs16926358	0.81[ASN][1000 genomes]
rs1893273	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1941462	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1989747	0.83[EUR][1000 genomes]
rs1989748	0.84[EUR][1000 genomes]
rs2007283	0.86[ASN][1000 genomes]
rs2178953	0.85[ASN][1000 genomes]
rs2186985	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3735827	0.85[ASN][1000 genomes]
rs55761966	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55831959	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55837608	0.83[ASN][1000 genomes]
rs55841758	0.90[ASN][1000 genomes]
rs56030634	0.90[ASN][1000 genomes]
rs56114656	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123131	0.85[ASN][1000 genomes]
rs56141796	0.90[ASN][1000 genomes]
rs56160504	0.90[ASN][1000 genomes]
rs56165842	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56192263	0.85[ASN][1000 genomes]
rs56332284	0.83[ASN][1000 genomes]
rs56342714	0.90[ASN][1000 genomes]
rs57297574	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57459725	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57550331	0.85[ASN][1000 genomes]
rs59861870	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60012828	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60183060	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60991551	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61120651	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6980590	0.90[ASN][1000 genomes]
rs6981694	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983084	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7016685	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs714207	0.87[ASN][1000 genomes]
rs72648528	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648529	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648531	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648552	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72648562	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648567	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648576	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648589	0.89[ASN][1000 genomes]
rs72648590	0.87[ASN][1000 genomes]
rs72648594	0.87[ASN][1000 genomes]
rs72648597	0.85[ASN][1000 genomes]
rs72648602	0.85[ASN][1000 genomes]
rs72650405	0.85[ASN][1000 genomes]
rs72650416	0.83[ASN][1000 genomes]
rs72650417	0.83[ASN][1000 genomes]
rs72650422	0.83[ASN][1000 genomes]
rs72650425	0.83[ASN][1000 genomes]
rs7817790	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7825009	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7825055	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7829407	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830976	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845982	0.83[ASN][1000 genomes]
rs922611	0.89[EUR][1000 genomes];0.92[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61369400-61375600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:61369600-61379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:61370600-61379800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:61371600-61375400	Enhancers	Fetal Brain Male	brain
5	chr8:61372000-61375200	Weak transcription	Fetal Lung	lung
6	chr8:61373800-61374800	Enhancers	Fetal Brain Female	brain
7	chr8:61374200-61374600	Active TSS	Aorta	Aorta
8	chr8:61374200-61375000	Enhancers	NHEK	skin
9	chr8:61374400-61375200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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