Variant report

Variant	rs2216827
Chromosome Location	chr2:31244297-31244298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10164479	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10166921	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10174368	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10192472	0.80[ASN][1000 genomes]
rs10197865	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10206704	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10209881	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10210092	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10210300	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10865086	0.86[ASN][1000 genomes]
rs12473730	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12712300	0.83[ASN][1000 genomes]
rs1862964	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1862965	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1862966	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1862967	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1862968	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2113487	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2113488	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2161835	0.80[ASN][1000 genomes]
rs2194454	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2194456	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2194457	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2365191	0.85[ASN][1000 genomes]
rs4245765	0.82[ASN][1000 genomes]
rs4245766	0.82[ASN][1000 genomes]
rs4951959	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4952027	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4952028	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952030	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4952032	0.82[ASN][1000 genomes]
rs5009910	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543594	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6543595	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6708989	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6752071	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6752303	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6752662	0.82[ASN][1000 genomes]
rs7558425	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7579017	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7582401	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7601904	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7605643	0.86[ASN][1000 genomes]
rs7608731	0.89[ASN][1000 genomes]
rs9679162	0.85[EUR][1000 genomes];0.89[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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31232600-31251000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31235200-31251000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:31235400-31251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:31236400-31249400	Weak transcription	NHEK	skin
5	chr2:31242800-31245600	Enhancers	Fetal Muscle Leg	muscle
6	chr2:31243400-31244400	Enhancers	Fetal Muscle Trunk	muscle

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