Variant report

Variant	rs17346285
Chromosome Location	chr5:54058141-54058142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54049724..54052539-chr5:54057510..54059343,2	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	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13436919	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2121130	0.92[EUR][1000 genomes]
rs2166355	0.93[EUR][1000 genomes]
rs35463987	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4274943	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4355479	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4380600	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4425466	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4472223	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4526067	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4572962	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55728436	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55944106	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56145198	0.88[EUR][1000 genomes]
rs56202300	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56207018	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56298453	0.87[EUR][1000 genomes]
rs56386053	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57059470	0.86[EUR][1000 genomes]
rs57348772	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60775366	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6450249	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66533726	0.94[EUR][1000 genomes]
rs66599423	0.95[EUR][1000 genomes]
rs66812968	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67510332	0.93[EUR][1000 genomes]
rs6867643	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6876730	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6897534	0.90[EUR][1000 genomes]
rs72757444	0.89[EUR][1000 genomes]
rs72757446	0.88[EUR][1000 genomes]
rs72760107	0.85[EUR][1000 genomes]
rs7710436	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7734384	0.81[AMR][1000 genomes];0.85[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54052200-54059800	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:54052600-54058600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:54052600-54058800	Enhancers	NHDF-Ad	bronchial
4	chr5:54055000-54058400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:54055000-54058600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:54055200-54058600	Enhancers	NHLF	lung
7	chr5:54055400-54058600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:54055400-54061000	Weak transcription	Pancreas	Pancrea
9	chr5:54055600-54059600	Weak transcription	Primary B cells from cord blood	blood
10	chr5:54056000-54058400	Enhancers	HSMMtube	muscle
11	chr5:54056600-54060000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:54057200-54059800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:54057400-54058400	Enhancers	Osteobl	bone
14	chr5:54057400-54062400	Weak transcription	HMEC	breast
15	chr5:54057400-54062600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:54057600-54058200	ZNF genes & repeats	Aorta	Aorta
17	chr5:54057600-54058400	Enhancers	Right Ventricle	heart
18	chr5:54057800-54058400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:54057800-54059800	Weak transcription	Right Atrium	heart
20	chr5:54057800-54059800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:54057800-54060400	Weak transcription	HSMM	muscle
22	chr5:54057800-54062000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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