Variant report

Variant	rs12031857
Chromosome Location	chr1:78930227-78930228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10082040	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10782665	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873983	0.84[ASN][1000 genomes]
rs10873984	0.82[ASN][1000 genomes]
rs10873985	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162488	0.86[ASN][1000 genomes]
rs11162489	0.86[ASN][1000 genomes]
rs11162490	0.86[ASN][1000 genomes]
rs11162492	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11162493	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12024476	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12049259	0.95[ASN][1000 genomes]
rs12073895	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1332254	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571366	0.90[ASN][1000 genomes]
rs1576806	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1590312	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1590313	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1929982	0.87[ASN][1000 genomes]
rs2208897	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224674	0.90[ASN][1000 genomes]
rs2990698	0.92[ASN][1000 genomes]
rs35166559	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482493	0.90[ASN][1000 genomes]
rs525351	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs537086	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs555475	0.89[ASN][1000 genomes]
rs571456	0.85[ASN][1000 genomes]
rs583964	0.80[ASN][1000 genomes]
rs585795	0.89[ASN][1000 genomes]
rs587996	0.92[ASN][1000 genomes]
rs591889	0.92[ASN][1000 genomes]
rs631280	0.92[ASN][1000 genomes]
rs632184	0.92[ASN][1000 genomes]
rs639594	0.90[ASN][1000 genomes]
rs646012	0.93[ASN][1000 genomes]
rs648572	0.90[ASN][1000 genomes]
rs651313	0.90[ASN][1000 genomes]
rs663934	0.81[ASN][1000 genomes]
rs6678699	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678443	0.85[ASN][1000 genomes]
rs689294	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv482697	chr1:78786028-78935333	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 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	chr1:78929800-78931200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:78930200-78930600	Enhancers	Osteobl	bone

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