Variant report

Variant	rs12047807
Chromosome Location	chr1:70124299-70124300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489548	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10489553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889846	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889847	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11209508	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12023616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023834	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12026446	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041861	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048889	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048977	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1582204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440810	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486403	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938920	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525565	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2764189	chr1:70111889-70137513	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	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	chr1:70106200-70126000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:70112400-70126000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:70122000-70124600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:70122600-70126000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:70122800-70124800	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:70123400-70125200	Enhancers	Primary T cells from cord blood	blood
7	chr1:70124000-70124800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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