Variant report

Variant	rs1499292
Chromosome Location	chr1:224763594-224763595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10799588	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10799589	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10916653	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566386	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566387	0.88[CEU][hapmap]
rs1566388	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1932991	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2405315	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2405317	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4654057	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654060	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665204	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697510	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516323	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529774	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7532595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs969026	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv945324	chr1:224762412-224763649	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224754000-224767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224754000-224767200	Weak transcription	NHDF-Ad	bronchial
4	chr1:224759800-224766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224759800-224767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:224762800-224766200	Weak transcription	Ovary	ovary
7	chr1:224763000-224764200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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