Variant report

Variant	rs73053957
Chromosome Location	chr5:15019067-15019068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10044822	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10044904	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10044907	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10044908	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10067400	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10513194	0.89[ASN][1000 genomes]
rs10513195	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11744215	0.89[ASN][1000 genomes]
rs16903773	0.93[ASN][1000 genomes]
rs16903778	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219003	0.88[ASN][1000 genomes]
rs58317516	1.00[EUR][1000 genomes]
rs62356077	0.86[ASN][1000 genomes]
rs6859541	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6864877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6867275	0.93[ASN][1000 genomes]
rs6877954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878138	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6878288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878430	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73053947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73053951	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341022	0.97[ASN][1000 genomes]
rs7341067	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341168	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312876	0.89[ASN][1000 genomes]
rs9686327	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15009400-15020800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:15009800-15021000	Weak transcription	Aorta	Aorta
3	chr5:15015200-15020400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:15015200-15021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:15015600-15020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:15015600-15021000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:15015600-15021000	Weak transcription	NH-A	brain
8	chr5:15016200-15020200	Weak transcription	Fetal Heart	heart
9	chr5:15016400-15020800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:15016400-15021000	Weak transcription	HSMMtube	muscle
11	chr5:15016600-15020200	Weak transcription	Osteobl	bone
12	chr5:15016800-15021200	Weak transcription	Right Atrium	heart
13	chr5:15018800-15019200	Enhancers	A549	lung
14	chr5:15019000-15020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:15019000-15021000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:15019000-15021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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