Variant report

Variant	rs1584465
Chromosome Location	chr5:119941345-119941346
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1037566	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1375462	0.84[YRI][hapmap]
rs1524562	0.80[AFR][1000 genomes]
rs1584463	0.91[AFR][1000 genomes]
rs1584464	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1584468	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1597285	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1851931	0.87[YRI][hapmap]
rs1997004	1.00[CEU][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2085179	0.86[AFR][1000 genomes]
rs35879493	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4895267	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595243	0.87[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7711209	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9717027	0.93[AMR][1000 genomes];1.00[EUR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119938600-119941400	Weak transcription	Left Ventricle	heart
2	chr5:119938600-119946000	Enhancers	NHDF-Ad	bronchial
3	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
4	chr5:119939400-119941600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119939800-119942600	Enhancers	NH-A	brain
6	chr5:119939800-119944600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:119940000-119942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:119940000-119942000	Enhancers	NHEK	skin
9	chr5:119940000-119942600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:119940000-119942600	Enhancers	HMEC	breast
11	chr5:119940000-119943400	Enhancers	NHLF	lung
12	chr5:119940200-119942000	Enhancers	Hela-S3	cervix
13	chr5:119940200-119942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:119940200-119943600	Enhancers	HSMM	muscle
15	chr5:119940400-119942600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:119940600-119941400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:119940600-119942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:119941000-119941600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr5:119941000-119941800	Flanking Active TSS	Osteobl	bone
20	chr5:119941000-119942000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:119941200-119941800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:119941200-119941800	Flanking Active TSS	HSMMtube	muscle
23	chr5:119941200-119942600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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