Variant report

Variant	rs2897758
Chromosome Location	chr5:54186769-54186770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10042734	0.88[EUR][1000 genomes]
rs10044930	0.92[ASN][1000 genomes]
rs10056452	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10805469	0.82[EUR][1000 genomes]
rs10805470	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10940431	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10940432	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10940434	0.88[EUR][1000 genomes]
rs11738151	0.88[EUR][1000 genomes]
rs11742711	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12515327	0.82[EUR][1000 genomes]
rs12657845	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1560165	0.89[EUR][1000 genomes]
rs1560166	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17588816	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1965716	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1988528	0.97[ASN][1000 genomes]
rs1991498	0.80[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs2017082	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2017318	0.95[ASN][1000 genomes]
rs2017540	0.95[ASN][1000 genomes]
rs2019005	0.89[EUR][1000 genomes]
rs2195392	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2195393	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2407758	0.99[ASN][1000 genomes]
rs28564901	0.86[EUR][1000 genomes]
rs3916738	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3935813	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4074332	0.82[JPT][hapmap]
rs4242047	0.83[EUR][1000 genomes]
rs4315891	0.85[ASN][1000 genomes]
rs4373237	0.83[ASN][1000 genomes]
rs4407587	0.85[ASN][1000 genomes]
rs4446420	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4502767	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4865586	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs4865587	0.84[ASN][1000 genomes]
rs4865879	0.89[EUR][1000 genomes]
rs4865880	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4865882	0.88[EUR][1000 genomes]
rs4865883	0.95[ASN][1000 genomes]
rs6860824	0.82[JPT][hapmap]
rs734097	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs737526	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7708368	0.88[ASN][1000 genomes]
rs7709516	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7734613	0.87[ASN][1000 genomes]
rs976645	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs981978	0.95[ASN][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	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
2	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
3	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54180400-54187800	Weak transcription	Gastric	stomach
2	chr5:54185200-54186800	Enhancers	Hela-S3	cervix
3	chr5:54185200-54186800	Enhancers	HSMMtube	muscle
4	chr5:54186200-54196600	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:54186400-54186800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:54186400-54191200	Weak transcription	Fetal Kidney	kidney
7	chr5:54186600-54190800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:54186600-54190800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:54186600-54191000	Weak transcription	HSMM	muscle

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