Variant report

Variant	rs12123470
Chromosome Location	chr1:85057996-85057997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10493752	0.85[ASN][1000 genomes]
rs11164004	0.85[ASN][1000 genomes]
rs11164005	0.85[ASN][1000 genomes]
rs12119873	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12127160	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12131448	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12137275	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12140532	0.85[ASN][1000 genomes]
rs12141472	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12145771	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1417295	0.84[EUR][1000 genomes]
rs1517601	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1517602	0.85[ASN][1000 genomes]
rs15911	0.85[ASN][1000 genomes]
rs17374628	0.85[ASN][1000 genomes]
rs17374941	0.85[ASN][1000 genomes]
rs1914477	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2203455	0.82[EUR][1000 genomes]
rs2911592	0.81[EUR][1000 genomes]
rs2911594	0.95[EUR][1000 genomes]
rs2911597	0.85[EUR][1000 genomes]
rs2911598	0.83[EUR][1000 genomes]
rs2911599	0.85[EUR][1000 genomes]
rs2911607	0.84[EUR][1000 genomes]
rs2911609	0.82[EUR][1000 genomes]
rs2943671	0.87[EUR][1000 genomes]
rs2945143	0.84[EUR][1000 genomes]
rs2945145	0.84[EUR][1000 genomes]
rs2945147	0.84[EUR][1000 genomes]
rs2994934	0.82[EUR][1000 genomes]
rs2994935	0.85[EUR][1000 genomes]
rs2994937	0.85[EUR][1000 genomes]
rs2994938	0.85[EUR][1000 genomes]
rs2994948	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356070	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4907080	0.85[ASN][1000 genomes]
rs7517756	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85052000-85064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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