Variant report

Variant	rs6040489
Chromosome Location	chr20:11240122-11240123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1473701	0.87[AMR][1000 genomes]
rs1473702	0.85[AMR][1000 genomes]
rs1473703	0.85[AMR][1000 genomes]
rs2076647	0.84[EUR][1000 genomes]
rs2207098	0.84[EUR][1000 genomes]
rs2207099	0.83[EUR][1000 genomes]
rs2207100	0.84[EUR][1000 genomes]
rs2876221	0.80[AMR][1000 genomes]
rs4643605	0.85[AMR][1000 genomes]
rs4813966	0.84[EUR][1000 genomes]
rs4813967	0.84[EUR][1000 genomes]
rs4813968	0.80[AMR][1000 genomes]
rs4813969	0.86[AMR][1000 genomes]
rs4813971	0.87[AMR][1000 genomes]
rs4813974	0.81[AMR][1000 genomes]
rs4813975	0.81[AMR][1000 genomes]
rs6033062	0.83[EUR][1000 genomes]
rs6033063	0.84[EUR][1000 genomes]
rs6033068	0.84[AMR][1000 genomes]
rs6033072	0.80[AMR][1000 genomes]
rs6040446	0.84[EUR][1000 genomes]
rs6040447	0.84[EUR][1000 genomes]
rs6040450	0.83[EUR][1000 genomes]
rs6040451	0.84[EUR][1000 genomes]
rs6040460	0.80[AMR][1000 genomes]
rs6040464	0.86[AMR][1000 genomes]
rs6040465	0.85[AMR][1000 genomes]
rs6040466	0.86[AMR][1000 genomes]
rs6040469	0.87[AMR][1000 genomes]
rs6040471	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6040479	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6040480	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6040481	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6040482	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6040486	0.81[ASN][1000 genomes]
rs6040487	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6040490	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6078109	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6108870	0.84[EUR][1000 genomes]
rs6108882	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs714691	0.84[EUR][1000 genomes]
rs761471	0.84[EUR][1000 genomes]
rs761472	0.84[EUR][1000 genomes]
rs926725	0.83[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv3292	chr20:11233247-11267986	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11235600-11251200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr20:11239600-11241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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