Variant report

Variant	rs10512853
Chromosome Location	chr5:44481017-44481018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1004720	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10512855	0.85[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13158765	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13160481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13160899	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13166702	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13169538	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13171351	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13176611	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13176804	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13182739	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13184756	0.85[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13188583	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13189872	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1482676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16901855	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16901879	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16901889	0.85[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16901892	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17234541	1.00[CHD][hapmap]
rs2062140	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2128437	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34031522	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34057718	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34110145	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34180349	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34277429	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34414216	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34439572	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34462071	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34512854	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34611602	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34617631	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34640244	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34810292	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35074718	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35108601	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35262233	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35321661	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35391530	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35483918	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35517954	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35530450	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35544349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35805621	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35947880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66479031	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66570818	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66704172	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66815332	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67771916	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6893398	1.00[CHD][hapmap]
rs72748094	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7718704	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830277	chr5:44383402-44566881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1024923	chr5:44439853-44528314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3425269	chr5:44461244-44487601	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44479800-44491800	Weak transcription	Fetal Lung	lung
2	chr5:44480200-44482800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:44480400-44481600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:44480400-44482200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:44480600-44482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:44481000-44481600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:44481000-44482000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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