Variant report

Variant	rs975453
Chromosome Location	chr2:116066984-116066985
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:50)

rs_ID	r²[population]
rs10180987	0.82[ASN][1000 genomes]
rs10181472	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10199934	0.84[EUR][1000 genomes]
rs1155664	0.82[ASN][1000 genomes]
rs1159302	0.83[ASN][1000 genomes]
rs11678564	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11691866	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11695752	0.89[EUR][1000 genomes]
rs11896853	0.85[ASN][1000 genomes]
rs11902350	0.82[ASN][1000 genomes]
rs12474916	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12478263	0.83[ASN][1000 genomes]
rs12478502	0.83[ASN][1000 genomes]
rs12611770	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1356384	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1400667	0.83[ASN][1000 genomes]
rs1402445	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1517371	0.84[ASN][1000 genomes]
rs1521071	0.82[ASN][1000 genomes]
rs1521075	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1521078	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1607914	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1812952	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1949402	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2176955	0.82[ASN][1000 genomes]
rs2420815	0.94[ASN][1000 genomes]
rs4353659	0.83[EUR][1000 genomes]
rs4353660	0.81[EUR][1000 genomes]
rs4429481	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4493269	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4624386	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4849396	0.82[ASN][1000 genomes]
rs62167292	0.82[ASN][1000 genomes]
rs62167293	0.88[AMR][1000 genomes]
rs6542256	0.87[ASN][1000 genomes]
rs6714356	0.81[ASN][1000 genomes]
rs6716722	0.83[ASN][1000 genomes]
rs6749876	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6760151	0.83[ASN][1000 genomes]
rs7422121	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7564387	0.84[ASN][1000 genomes]
rs7568698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7571103	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7578669	0.82[ASN][1000 genomes]
rs7598070	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7605036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606313	0.89[EUR][1000 genomes]
rs908599	0.95[ASN][1000 genomes]
rs949889	0.82[ASN][1000 genomes]
rs992217	0.83[ASN][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	nsv1001542	chr2:115920847-116082585	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834339	chr2:115953298-116132979	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr2:116050800-116068000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:116065000-116068600	Enhancers	Primary monocytes fromperipheralblood	blood

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