Variant report

Variant	rs72788221
Chromosome Location	chr5:119832860-119832861
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1454982	0.92[ASN][1000 genomes]
rs17146672	0.84[ASN][1000 genomes]
rs17146705	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17146710	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902147	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601210	0.92[ASN][1000 genomes]
rs2601211	0.92[ASN][1000 genomes]
rs2604163	0.92[ASN][1000 genomes]
rs2604165	0.92[ASN][1000 genomes]
rs41357149	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6892665	0.92[ASN][1000 genomes]
rs72786244	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72786259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788230	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788231	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788233	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788238	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788245	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788246	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733602	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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119808600-119835800	Weak transcription	HSMM	muscle
2	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
3	chr5:119816400-119835400	Weak transcription	Osteobl	bone
4	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:119818600-119835000	Weak transcription	Muscle Satellite Cultured Cells	--

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