Variant report

Variant	rs4895267
Chromosome Location	chr5:119944387-119944388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1037566	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1584463	0.83[AFR][1000 genomes]
rs1584464	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1584465	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1584468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1997004	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2085179	0.92[AFR][1000 genomes]
rs35879493	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595243	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7711209	0.80[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119938600-119946000	Enhancers	NHDF-Ad	bronchial
2	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
3	chr5:119939800-119944600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:119941600-119946600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:119941800-119945400	Enhancers	Osteobl	bone
6	chr5:119941800-119950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:119942000-119945200	Weak transcription	Hela-S3	cervix
8	chr5:119942000-119947000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:119942600-119945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:119942600-119949400	Weak transcription	HMEC	breast
11	chr5:119942600-119949600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:119942600-119952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:119943000-119945800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:119943600-119944600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:119943800-119944600	Enhancers	NHLF	lung
16	chr5:119944000-119946000	Enhancers	NH-A	brain
17	chr5:119944200-119945000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:119944200-119945400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:119944200-119945400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:119944200-119945400	Weak transcription	HSMMtube	muscle
21	chr5:119944200-119945800	Enhancers	HSMM	muscle

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