Variant report

Variant	rs12612088
Chromosome Location	chr2:168465956-168465957
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10177694	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10182563	0.82[EUR][1000 genomes]
rs10182569	0.83[EUR][1000 genomes]
rs10195156	0.83[EUR][1000 genomes]
rs1079438	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1079439	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1079440	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930274	0.87[EUR][1000 genomes]
rs1227106	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1227122	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1227123	0.80[EUR][1000 genomes]
rs1235206	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1236836	0.82[EUR][1000 genomes]
rs1237905	0.86[EUR][1000 genomes]
rs13398335	0.82[EUR][1000 genomes]
rs13427510	0.86[EUR][1000 genomes]
rs1367919	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1367921	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1431901	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1431903	0.82[EUR][1000 genomes]
rs1615054	0.86[EUR][1000 genomes]
rs1617451	0.82[EUR][1000 genomes]
rs1653383	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1653385	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1653432	0.89[EUR][1000 genomes]
rs1730715	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1730726	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1821135	0.88[ASN][1000 genomes]
rs1835746	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1852903	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1852904	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667958	0.92[ASN][1000 genomes]
rs4667959	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6733068	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743050	0.86[EUR][1000 genomes]
rs73013367	0.82[EUR][1000 genomes]
rs73013383	0.86[EUR][1000 genomes]
rs734283	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs734284	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs735424	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7576381	0.82[EUR][1000 genomes]
rs7590728	0.83[EUR][1000 genomes]
rs891741	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891742	0.82[EUR][1000 genomes];0.89[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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv583594	chr2:168461161-168597986	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168464200-168476600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168464600-168473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:168464600-168474200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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