Variant report

Variant	rs6596512
Chromosome Location	chr5:101967189-101967190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11958430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152753	1.00[EUR][1000 genomes]
rs17153568	1.00[EUR][1000 genomes]
rs17153781	1.00[EUR][1000 genomes]
rs17154026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58716855	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59290324	1.00[AMR][1000 genomes]
rs60180431	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6596510	1.00[EUR][1000 genomes]
rs6596511	1.00[EUR][1000 genomes]
rs6596513	1.00[EUR][1000 genomes]
rs6869156	1.00[AMR][1000 genomes]
rs6869874	1.00[EUR][1000 genomes]
rs6870563	1.00[AMR][1000 genomes]
rs6870753	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6872779	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6884867	1.00[EUR][1000 genomes]
rs6890942	1.00[AMR][1000 genomes]
rs6892195	1.00[AMR][1000 genomes]
rs73774846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73774847	1.00[EUR][1000 genomes]
rs7703621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7707787	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716303	1.00[AMR][1000 genomes]
rs7721591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723320	1.00[EUR][1000 genomes]
rs7724728	1.00[AMR][1000 genomes]
rs7727074	1.00[EUR][1000 genomes]
rs7729678	1.00[AMR][1000 genomes]
rs7736392	1.00[EUR][1000 genomes]
rs9686868	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1033193	chr5:101859229-102420837	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1033405	chr5:101912749-102005038	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	nsv427728	chr5:101937704-102103247	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101966200-101970800	Weak transcription	Aorta	Aorta

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