Variant report

Variant	rs4274943
Chromosome Location	chr5:54091136-54091137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10064404	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10066485	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10072474	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10074079	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs10075754	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs13436904	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17346285	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2166355	0.80[EUR][1000 genomes]
rs35463987	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4355479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4380600	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4425466	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs4472223	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4526067	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4572962	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55728436	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55944106	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56145198	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56202300	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56207018	0.85[EUR][1000 genomes]
rs56298453	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56386053	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57059470	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57348772	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60775366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66533726	0.81[EUR][1000 genomes]
rs66599423	0.81[EUR][1000 genomes]
rs66812968	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66955270	0.85[EUR][1000 genomes]
rs67510332	0.80[EUR][1000 genomes]
rs6867643	0.85[EUR][1000 genomes]
rs6876730	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72757444	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72757446	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72760107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7703792	0.87[AMR][1000 genomes]
rs7710436	0.85[EUR][1000 genomes]
rs7733091	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7734384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2754136	chr5:54083387-54107727	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54073000-54097600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:54087600-54103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:54087800-54092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:54088400-54091600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:54088400-54091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:54088600-54091800	Enhancers	Stomach Mucosa	stomach
7	chr5:54089000-54092000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:54089600-54091200	Weak transcription	NHLF	lung
9	chr5:54089800-54091200	Enhancers	Fetal Thymus	thymus
10	chr5:54090000-54091200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:54090000-54091400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:54090200-54091200	Enhancers	Primary T cells from cord blood	blood
13	chr5:54090200-54091200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:54090200-54091200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:54090200-54091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:54090200-54091400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:54090400-54091200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:54090400-54091400	Weak transcription	NHDF-Ad	bronchial
19	chr5:54090600-54091200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:54090600-54091200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:54090600-54091200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:54091000-54103600	Weak transcription	Aorta	Aorta

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