Variant report

Variant	rs1584463
Chromosome Location	chr5:119939530-119939531
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:32)

rs_ID	r²[population]
rs10040356	0.94[ASN][1000 genomes]
rs10042936	0.94[ASN][1000 genomes]
rs10042938	0.94[ASN][1000 genomes]
rs10059619	0.85[ASN][1000 genomes]
rs10074952	0.85[ASN][1000 genomes]
rs10077623	0.85[ASN][1000 genomes]
rs10078711	0.94[ASN][1000 genomes]
rs1037565	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037567	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13355058	0.85[ASN][1000 genomes]
rs13356254	0.85[ASN][1000 genomes]
rs13357710	0.85[ASN][1000 genomes]
rs13359996	0.85[ASN][1000 genomes]
rs13360650	0.94[ASN][1000 genomes]
rs13362045	0.85[ASN][1000 genomes]
rs1375462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524562	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584464	0.91[AFR][1000 genomes]
rs1584465	0.91[AFR][1000 genomes]
rs1584468	0.91[AFR][1000 genomes]
rs1597285	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851931	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997005	0.81[AMR][1000 genomes]
rs2085179	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28517751	0.97[ASN][1000 genomes]
rs28657882	0.85[ASN][1000 genomes]
rs28697043	0.85[ASN][1000 genomes]
rs4413562	0.85[ASN][1000 genomes]
rs4895267	0.83[AFR][1000 genomes]
rs7356735	0.91[ASN][1000 genomes]
rs7703789	0.94[ASN][1000 genomes]
rs7711209	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:119935600-119940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119935800-119939600	Weak transcription	HSMM	muscle
3	chr5:119935800-119940000	Weak transcription	NHLF	lung
4	chr5:119935800-119940200	Weak transcription	Hela-S3	cervix
5	chr5:119936600-119940000	Weak transcription	HMEC	breast
6	chr5:119938200-119940400	Enhancers	Osteobl	bone
7	chr5:119938600-119941400	Weak transcription	Left Ventricle	heart
8	chr5:119938600-119946000	Enhancers	NHDF-Ad	bronchial
9	chr5:119938800-119939800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:119938800-119940000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
12	chr5:119939400-119939600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:119939400-119940400	Enhancers	HSMMtube	muscle
14	chr5:119939400-119941600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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