Variant report

Variant	rs2994944
Chromosome Location	chr1:85056168-85056169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10874451	1.00[CHB][hapmap]
rs12125418	0.85[CHB][hapmap]
rs1850508	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1850509	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2007454	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2203455	0.89[ASN][1000 genomes]
rs2911590	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2911595	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2911603	0.87[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2911604	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2911605	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2943663	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2943669	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2943670	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2943671	0.91[ASN][1000 genomes]
rs2943675	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2943676	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2943677	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2943678	0.91[EUR][1000 genomes]
rs2945140	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945142	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945143	0.82[ASN][1000 genomes]
rs2945145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2945146	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2945148	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945149	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945150	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2945152	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945155	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2945158	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2945160	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2994940	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994943	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2994946	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994947	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4907079	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6690204	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[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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