Variant report

Variant	rs12612028
Chromosome Location	chr2:168125843-168125844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10193480	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10497323	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12611980	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357598	0.81[EUR][1000 genomes]
rs1564384	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16853244	0.95[EUR][1000 genomes]
rs1842233	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2204279	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4315485	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4610018	0.87[EUR][1000 genomes]
rs57543537	0.95[EUR][1000 genomes]
rs60477253	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60988732	0.85[EUR][1000 genomes]
rs61036436	0.85[EUR][1000 genomes]
rs6432989	0.95[EUR][1000 genomes]
rs6708386	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6746061	0.95[EUR][1000 genomes]
rs73029721	0.88[EUR][1000 genomes]
rs7419512	0.95[EUR][1000 genomes]
rs7556840	0.95[EUR][1000 genomes]
rs7560985	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7564986	0.88[EUR][1000 genomes]
rs7569158	0.95[EUR][1000 genomes]
rs7602065	0.93[EUR][1000 genomes]
rs7602119	0.95[EUR][1000 genomes]
rs7603500	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7605309	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9784125	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[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	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv979347	chr2:168092753-168141678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168124800-168126200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168124800-168126200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:168125000-168126600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr2:168125000-168126600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr2:168125200-168126600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr2:168125200-168126600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:168125800-168126600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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