Variant report

Variant	rs12407647
Chromosome Location	chr1:210076483-210076484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1040424	0.93[AMR][1000 genomes]
rs1040426	0.93[AMR][1000 genomes]
rs10489346	0.81[AMR][1000 genomes]
rs10779520	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10779521	0.84[AMR][1000 genomes]
rs10863796	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10863800	0.93[AMR][1000 genomes]
rs10863801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863806	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863809	0.84[AMR][1000 genomes]
rs11119360	1.00[EUR][1000 genomes]
rs11119361	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11119362	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119371	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11119372	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119373	0.93[AMR][1000 genomes]
rs11119377	0.81[AMR][1000 genomes]
rs11119384	0.90[AMR][1000 genomes]
rs11119388	0.90[AMR][1000 genomes]
rs11119391	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119394	0.87[AMR][1000 genomes]
rs11119398	0.81[AMR][1000 genomes]
rs11119401	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119403	0.84[AMR][1000 genomes]
rs12057832	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059828	0.84[AMR][1000 genomes]
rs12061641	0.84[AMR][1000 genomes]
rs12064990	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12065575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12073617	0.84[AMR][1000 genomes]
rs12078802	0.90[AMR][1000 genomes]
rs12079812	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12084199	0.90[AMR][1000 genomes]
rs12085177	0.90[AMR][1000 genomes]
rs12089449	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094309	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094626	0.90[AMR][1000 genomes]
rs12354000	0.98[AMR][1000 genomes]
rs12401574	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403002	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403098	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12405519	0.93[AMR][1000 genomes]
rs12405601	0.90[AMR][1000 genomes]
rs12408689	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12409069	1.00[EUR][1000 genomes]
rs12409582	0.95[AMR][1000 genomes]
rs12565072	0.87[AMR][1000 genomes]
rs12566314	0.87[AMR][1000 genomes]
rs1387932	0.84[AMR][1000 genomes]
rs17015564	0.84[AMR][1000 genomes]
rs17015565	0.84[AMR][1000 genomes]
rs17015566	0.84[AMR][1000 genomes]
rs2038052	1.00[EUR][1000 genomes]
rs2130625	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844498	1.00[EUR][1000 genomes]
rs4844501	0.98[AMR][1000 genomes]
rs4844502	0.97[AMR][1000 genomes]
rs4844507	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844916	0.98[AMR][1000 genomes]
rs4844923	0.93[AMR][1000 genomes]
rs4844924	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844928	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4844935	0.90[AMR][1000 genomes]
rs4844936	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844937	0.87[AMR][1000 genomes]
rs4844938	0.86[AMR][1000 genomes]
rs4844939	0.87[AMR][1000 genomes]
rs4844940	0.86[AMR][1000 genomes]
rs4844941	0.81[AMR][1000 genomes]
rs4844942	0.81[AMR][1000 genomes]
rs4844943	0.84[AMR][1000 genomes]
rs4844944	0.84[AMR][1000 genomes]
rs4844946	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs713114	0.93[AMR][1000 genomes]
rs72649912	0.97[AMR][1000 genomes]
rs72649913	0.97[AMR][1000 genomes]
rs72649914	0.95[AMR][1000 genomes]
rs72649920	0.97[AMR][1000 genomes]
rs72649921	0.93[AMR][1000 genomes]
rs72649923	0.93[AMR][1000 genomes]
rs72649924	0.93[AMR][1000 genomes]
rs72649925	0.93[AMR][1000 genomes]
rs72649937	0.86[AMR][1000 genomes]
rs72649938	0.81[AMR][1000 genomes]
rs72649940	0.81[AMR][1000 genomes]
rs72649948	0.84[AMR][1000 genomes]
rs72649949	0.84[AMR][1000 genomes]
rs760768	0.87[AMR][1000 genomes]
rs9787400	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1821635	chr1:210068117-210085756	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv4354	chr1:210070574-210100783	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv826498	chr1:210075927-210086136	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3319564	chr1:210076329-210087927	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1821162	chr1:210076345-210086267	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210076200-210077000	Enhancers	HMEC	breast

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