Variant report

Variant	rs2126712
Chromosome Location	chr3:110776173-110776174
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11717706	0.94[EUR][1000 genomes]
rs11919892	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927478	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13060876	0.83[EUR][1000 genomes]
rs13072462	0.89[EUR][1000 genomes]
rs1382075	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462789	0.80[ASN][1000 genomes]
rs1477843	0.89[EUR][1000 genomes]
rs1477847	0.89[EUR][1000 genomes]
rs1477854	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477855	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1547518	0.94[EUR][1000 genomes]
rs1585629	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1600059	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16857483	0.81[AFR][1000 genomes]
rs1871026	0.99[ASN][1000 genomes]
rs2126710	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126713	0.85[EUR][1000 genomes]
rs2399373	0.94[EUR][1000 genomes]
rs28772911	0.89[ASN][1000 genomes]
rs35665971	0.81[AFR][1000 genomes]
rs4682229	0.91[EUR][1000 genomes]
rs4682230	0.94[EUR][1000 genomes]
rs4682231	0.94[EUR][1000 genomes]
rs6437940	0.80[ASN][1000 genomes]
rs66845903	1.00[ASN][1000 genomes]
rs6765948	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6781480	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790828	0.83[ASN][1000 genomes]
rs7612572	0.89[EUR][1000 genomes]
rs7612667	0.89[EUR][1000 genomes]
rs7622983	0.81[AFR][1000 genomes]
rs7623064	0.81[AFR][1000 genomes]
rs7623103	0.81[AFR][1000 genomes]
rs7632375	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632388	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637068	0.81[AFR][1000 genomes]
rs7644948	0.81[AFR][1000 genomes]
rs9817950	0.80[ASN][1000 genomes]
rs9818950	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821335	0.89[EUR][1000 genomes]
rs9828899	0.94[EUR][1000 genomes]
rs9837377	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9847598	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9876350	0.94[EUR][1000 genomes]
rs9877855	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110765000-110788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:110768800-110776400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:110774000-110782000	Weak transcription	Ovary	ovary
4	chr3:110775200-110776200	Weak transcription	Fetal Stomach	stomach
5	chr3:110775800-110786800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:110776000-110776200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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