Variant report

Variant	rs12109423
Chromosome Location	chr5:119837616-119837617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119835822..119838149-chr5:119840873..119842800,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10035683	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10052315	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052334	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064623	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065330	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10214171	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477605	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478471	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478472	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478474	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949016	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957506	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958925	1.00[ASN][1000 genomes]
rs11960555	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356306	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356782	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357191	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359288	1.00[ASN][1000 genomes]
rs13359350	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360299	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361121	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362523	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604164	1.00[ASN][1000 genomes]
rs2691097	0.82[EUR][1000 genomes]
rs4476747	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895159	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895160	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895257	1.00[ASN][1000 genomes]
rs4895258	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895259	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595236	1.00[ASN][1000 genomes]
rs6595239	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871554	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264200	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266107	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448156	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706025	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710626	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710848	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710928	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712847	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728098	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733397	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327144	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9327146	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
2	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:119834400-119843600	Weak transcription	HSMMtube	muscle
5	chr5:119835800-119843000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:119836400-119852400	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links