Variant report

Variant	rs10064404
Chromosome Location	chr5:54082577-54082578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10066485	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10072474	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10074079	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10075754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436904	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13436919	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4274943	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4355479	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4380600	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4425466	0.90[CEU][hapmap]
rs4472223	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4498222	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4526067	0.84[AMR][1000 genomes]
rs4572962	0.81[CEU][hapmap]
rs55728436	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55944106	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs56145198	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56298453	0.81[AMR][1000 genomes]
rs57059470	0.80[AFR][1000 genomes]
rs57348772	0.84[AMR][1000 genomes]
rs60775366	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6450249	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs66812968	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6876730	0.84[AMR][1000 genomes]
rs72757444	0.80[EUR][1000 genomes]
rs7703792	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7734384	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:30 , 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	chr5:54080800-54083400	Enhancers	Primary B cells from cord blood	blood
3	chr5:54081400-54082600	Flanking Active TSS	K562	blood
4	chr5:54081400-54082800	Enhancers	Right Ventricle	heart
5	chr5:54081400-54083200	Enhancers	Adipose Nuclei	Adipose
6	chr5:54081400-54083200	Enhancers	Brain Hippocampus Middle	brain
7	chr5:54081400-54083200	Enhancers	Fetal Heart	heart
8	chr5:54081400-54083200	Enhancers	Left Ventricle	heart
9	chr5:54081400-54083200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:54081400-54083400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:54081400-54083400	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:54081400-54083600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:54081600-54082600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:54081600-54082600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:54081600-54082600	Enhancers	Lung	lung
16	chr5:54081600-54082600	Enhancers	Ovary	ovary
17	chr5:54081600-54082600	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:54081600-54082800	Enhancers	Placenta	Placenta
19	chr5:54081600-54083000	Enhancers	Pancreas	Pancrea
20	chr5:54081600-54083000	Enhancers	Spleen	Spleen
21	chr5:54081600-54083200	Enhancers	Aorta	Aorta
22	chr5:54081600-54083400	Enhancers	Fetal Muscle Leg	muscle
23	chr5:54081800-54082600	Enhancers	Fetal Thymus	thymus
24	chr5:54081800-54082800	Enhancers	Right Atrium	heart
25	chr5:54081800-54082800	Flanking Active TSS	GM12878-XiMat	blood
26	chr5:54082000-54082800	Enhancers	Brain Anterior Caudate	brain
27	chr5:54082000-54083000	Weak transcription	Colonic Mucosa	Colon
28	chr5:54082000-54088600	Weak transcription	Fetal Stomach	stomach
29	chr5:54082400-54083200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr5:54082400-54087600	Weak transcription	Fetal Muscle Trunk	muscle

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