Variant report

Variant	rs56386053
Chromosome Location	chr5:54060535-54060536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54047842..54051825-chr5:54059537..54062884,3	K562	blood:
2	chr5:54053223..54055714-chr5:54058772..54060813,2	K562	blood:
3	chr5:54053223..54055714-chr5:54058237..54060813,3	K562	blood:
4	chr5:54058549..54060576-chr5:54060806..54063597,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13436904	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13436919	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17346285	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2121130	0.93[EUR][1000 genomes]
rs2166355	0.94[EUR][1000 genomes]
rs35463987	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4274943	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4355479	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4380600	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4425466	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4472223	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4526067	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4572962	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55728436	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55944106	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56145198	0.89[EUR][1000 genomes]
rs56202300	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56207018	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56298453	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57059470	0.86[EUR][1000 genomes]
rs57348772	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60775366	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6450249	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66533726	0.95[EUR][1000 genomes]
rs66599423	0.95[EUR][1000 genomes]
rs66812968	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67510332	0.94[EUR][1000 genomes]
rs6867643	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6876730	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6897534	0.90[EUR][1000 genomes]
rs72757444	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72757446	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72760107	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7710436	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7734384	0.82[AMR][1000 genomes];0.86[EUR][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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54055400-54061000	Weak transcription	Pancreas	Pancrea
2	chr5:54057400-54062400	Weak transcription	HMEC	breast
3	chr5:54057400-54062600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:54057800-54062000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:54058200-54061000	Weak transcription	Aorta	Aorta
6	chr5:54058600-54060600	Weak transcription	NHLF	lung
7	chr5:54059600-54061200	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:54059600-54061200	Enhancers	HSMMtube	muscle
9	chr5:54059800-54060600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:54059800-54060600	Enhancers	Fetal Muscle Leg	muscle
11	chr5:54059800-54060800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:54059800-54060800	Enhancers	NHDF-Ad	bronchial
13	chr5:54059800-54061200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:54060000-54061200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:54060000-54061400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:54060200-54061600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:54060400-54060600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:54060400-54061200	Enhancers	HSMM	muscle

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