Variant report

Variant	rs1731489
Chromosome Location	chr12:30470040-30470041
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10843690	0.82[EUR][1000 genomes]
rs11050808	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050823	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11050826	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11050828	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11513492	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11608277	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11612317	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11613370	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11613642	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614392	0.96[EUR][1000 genomes]
rs12424369	0.82[EUR][1000 genomes]
rs12425538	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs12815231	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12823889	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12826074	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12831890	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1429628	0.82[EUR][1000 genomes]
rs1652182	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1896909	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2010880	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34300913	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354136	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61920761	0.82[EUR][1000 genomes]
rs6487894	0.82[EUR][1000 genomes]
rs6487896	0.82[EUR][1000 genomes]
rs6487897	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs725063	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295282	0.82[EUR][1000 genomes]
rs7296820	0.82[EUR][1000 genomes]
rs7298770	0.82[EUR][1000 genomes]
rs7303893	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7304070	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313186	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7314209	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955178	0.82[EUR][1000 genomes]
rs7964943	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7972984	0.83[EUR][1000 genomes]
rs7978437	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs891318	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30469800-30470200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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