Variant report

Variant	rs12380729
Chromosome Location	chr9:118578243-118578244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10448252	0.81[EUR][1000 genomes]
rs10982940	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982943	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10982952	0.81[EUR][1000 genomes]
rs10982953	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10982968	1.00[AFR][1000 genomes]
rs10982976	1.00[AFR][1000 genomes]
rs10982981	1.00[AFR][1000 genomes]
rs10982982	1.00[AFR][1000 genomes]
rs10982985	1.00[AFR][1000 genomes]
rs10982996	1.00[AFR][1000 genomes]
rs10983000	1.00[AFR][1000 genomes]
rs10983003	1.00[AFR][1000 genomes]
rs10983004	1.00[AFR][1000 genomes]
rs10983005	1.00[AFR][1000 genomes]
rs10983007	1.00[AFR][1000 genomes]
rs12156496	0.98[EUR][1000 genomes]
rs12378736	1.00[AFR][1000 genomes]
rs2418420	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3761841	1.00[AFR][1000 genomes]
rs3789264	1.00[AFR][1000 genomes]
rs4145478	1.00[AFR][1000 genomes]
rs62575661	1.00[AFR][1000 genomes]
rs62575664	1.00[AFR][1000 genomes]
rs62577087	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62577088	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62577089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62577091	0.93[EUR][1000 genomes]
rs62577094	0.98[EUR][1000 genomes]
rs62577095	0.81[EUR][1000 genomes]
rs62577110	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62577139	1.00[AFR][1000 genomes]
rs62577140	1.00[AFR][1000 genomes]
rs62577141	1.00[AFR][1000 genomes]
rs62577143	1.00[AFR][1000 genomes]
rs62577146	1.00[AFR][1000 genomes]
rs62577147	1.00[AFR][1000 genomes]
rs62577148	1.00[AFR][1000 genomes]
rs62577150	1.00[AFR][1000 genomes]
rs68019277	0.80[ASN][1000 genomes]
rs7046862	1.00[AFR][1000 genomes]
rs7047141	1.00[AFR][1000 genomes]
rs72615099	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616612	1.00[AFR][1000 genomes]
rs72616613	1.00[AFR][1000 genomes]
rs72616614	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv2761553	chr9:118454942-118598371	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1047761	chr9:118455827-118598371	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv831699	chr9:118457011-118641819	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv518670	chr9:118461823-118597837	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 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	chr9:118566800-118585800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:118567000-118586200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr9:118577800-118578600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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