Variant report

Variant	rs2085179
Chromosome Location	chr5:119940398-119940399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

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]
rs1584463	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584464	0.86[AFR][1000 genomes]
rs1584465	0.86[AFR][1000 genomes]
rs1584468	0.83[AFR][1000 genomes]
rs1597285	0.82[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]
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	0.92[AFR][1000 genomes]
rs7356735	0.91[ASN][1000 genomes]
rs7703789	0.94[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119938200-119940400	Enhancers	Osteobl	bone
2	chr5:119938600-119941400	Weak transcription	Left Ventricle	heart
3	chr5:119938600-119946000	Enhancers	NHDF-Ad	bronchial
4	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
5	chr5:119939400-119940400	Enhancers	HSMMtube	muscle
6	chr5:119939400-119941600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:119939600-119940600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr5:119939800-119942600	Enhancers	NH-A	brain
9	chr5:119939800-119944600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:119940000-119940600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:119940000-119942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:119940000-119942000	Enhancers	NHEK	skin
13	chr5:119940000-119942600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:119940000-119942600	Enhancers	HMEC	breast
15	chr5:119940000-119943400	Enhancers	NHLF	lung
16	chr5:119940200-119940400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:119940200-119942000	Enhancers	Hela-S3	cervix
18	chr5:119940200-119942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:119940200-119943600	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links