Variant report

Variant	rs6881962
Chromosome Location	chr5:119941127-119941128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10037806	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10053278	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10077211	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11241557	0.84[ASN][1000 genomes]
rs12054672	0.84[ASN][1000 genomes]
rs12519395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12654348	0.84[ASN][1000 genomes]
rs1375463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1449165	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1524559	0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1524564	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1960572	0.84[ASN][1000 genomes]
rs2045187	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2124166	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2124167	0.91[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2168217	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2218717	0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2405955	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2405957	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4438902	0.86[ASN][1000 genomes]
rs4895266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6881097	0.89[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6891778	0.88[JPT][hapmap]
rs7724401	0.91[CHB][hapmap];0.81[JPT][hapmap]

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:22 , 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	chr5:119940600-119941200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:119940600-119941400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:119940600-119942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:119940800-119941200	Active TSS	HSMMtube	muscle
20	chr5:119941000-119941600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr5:119941000-119941800	Flanking Active TSS	Osteobl	bone
22	chr5:119941000-119942000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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