Variant report

Variant	rs2485883
Chromosome Location	chr1:210361135-210361136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11590161	0.84[ASN][1000 genomes]
rs12401646	0.87[ASN][1000 genomes]
rs12750599	0.84[ASN][1000 genomes]
rs1338286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17318612	0.87[ASN][1000 genomes]
rs17318744	0.87[ASN][1000 genomes]
rs1806963	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2096152	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2451696	0.87[ASN][1000 genomes]
rs2451697	0.87[ASN][1000 genomes]
rs2484030	0.90[ASN][1000 genomes]
rs2484031	0.90[ASN][1000 genomes]
rs2484032	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2484034	0.87[ASN][1000 genomes]
rs2485884	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2485885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2485897	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2485898	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2485902	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2487907	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2494170	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2494191	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35256257	0.87[ASN][1000 genomes]
rs35640054	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4844954	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56131913	0.84[ASN][1000 genomes]
rs61820397	0.87[ASN][1000 genomes]
rs61826848	0.87[ASN][1000 genomes]
rs6540578	0.87[ASN][1000 genomes]
rs7543650	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210339400-210361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210360000-210362400	Enhancers	HSMMtube	muscle
3	chr1:210360800-210362800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:210361000-210362200	Enhancers	HMEC	breast
5	chr1:210361000-210362400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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