Variant report

Variant	rs11749468
Chromosome Location	chr5:178244076-178244077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10903231	0.81[ASN][1000 genomes]
rs10903232	0.81[ASN][1000 genomes]
rs10903233	0.81[ASN][1000 genomes]
rs11249574	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11249580	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11249581	0.81[ASN][1000 genomes]
rs11249582	0.81[ASN][1000 genomes]
rs11249583	0.81[ASN][1000 genomes]
rs11249584	0.81[ASN][1000 genomes]
rs11249589	0.81[ASN][1000 genomes]
rs11249590	0.81[ASN][1000 genomes]
rs11249591	0.81[ASN][1000 genomes]
rs11249592	0.81[ASN][1000 genomes]
rs11738631	0.81[ASN][1000 genomes]
rs11739648	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741533	0.81[ASN][1000 genomes]
rs11742308	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11742485	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743902	0.81[ASN][1000 genomes]
rs11744463	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11747183	0.91[ASN][1000 genomes]
rs11747490	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11747908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11750068	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11750778	0.83[EUR][1000 genomes]
rs11750817	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11952175	0.81[ASN][1000 genomes]
rs11952214	0.81[ASN][1000 genomes]
rs11952453	0.81[ASN][1000 genomes]
rs12054925	0.81[ASN][1000 genomes]
rs12054934	0.81[ASN][1000 genomes]
rs12054952	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12055051	0.81[ASN][1000 genomes]
rs12055057	0.81[ASN][1000 genomes]
rs12055318	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12055319	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12152723	0.81[ASN][1000 genomes]
rs12153004	0.81[ASN][1000 genomes]
rs12153245	0.81[ASN][1000 genomes]
rs13160205	0.81[ASN][1000 genomes]
rs13162024	0.81[ASN][1000 genomes]
rs13163348	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13163498	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13163978	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13163995	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13165291	0.80[ASN][1000 genomes]
rs13165500	0.80[ASN][1000 genomes]
rs13167335	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13171941	0.91[ASN][1000 genomes]
rs13173488	0.80[ASN][1000 genomes]
rs13173515	0.80[ASN][1000 genomes]
rs13174478	0.81[ASN][1000 genomes]
rs13174626	0.80[ASN][1000 genomes]
rs13174654	0.80[ASN][1000 genomes]
rs13177176	0.81[ASN][1000 genomes]
rs13177181	0.81[ASN][1000 genomes]
rs13181764	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183235	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13183254	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13184377	0.81[ASN][1000 genomes]
rs13184871	0.83[EUR][1000 genomes]
rs13184885	0.83[EUR][1000 genomes]
rs13187283	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28397824	0.80[ASN][1000 genomes]
rs28786208	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34025705	0.81[ASN][1000 genomes]
rs34040448	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34124262	0.81[ASN][1000 genomes]
rs34325875	0.81[AMR][1000 genomes]
rs34329741	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34333217	0.83[EUR][1000 genomes]
rs34404810	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34615592	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34638365	0.82[AMR][1000 genomes]
rs34654809	0.83[EUR][1000 genomes]
rs34671298	0.81[ASN][1000 genomes]
rs34720930	0.81[ASN][1000 genomes]
rs34742934	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34744054	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34751264	0.81[ASN][1000 genomes]
rs34755091	0.83[EUR][1000 genomes]
rs34798599	0.81[ASN][1000 genomes]
rs35070400	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35190196	0.81[ASN][1000 genomes]
rs35191404	0.80[EUR][1000 genomes]
rs35320769	0.83[EUR][1000 genomes]
rs35374087	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35429406	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35714569	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35721293	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35854619	0.81[ASN][1000 genomes]
rs35869133	0.81[ASN][1000 genomes]
rs35930664	0.82[EUR][1000 genomes]
rs55641255	0.86[ASN][1000 genomes]
rs55661365	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55773401	0.86[ASN][1000 genomes]
rs55893193	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55897858	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56081363	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56090685	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56162146	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56345756	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56399130	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62392962	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392963	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62393010	0.85[EUR][1000 genomes]
rs62393027	0.81[ASN][1000 genomes]
rs62393028	0.81[ASN][1000 genomes]
rs67665237	0.81[ASN][1000 genomes]
rs67741599	0.81[ASN][1000 genomes]
rs67875835	0.84[ASN][1000 genomes]
rs6877160	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6881517	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6883437	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6894928	0.83[EUR][1000 genomes]
rs71594798	0.81[ASN][1000 genomes]
rs71611464	0.81[ASN][1000 genomes]
rs71611465	0.81[ASN][1000 genomes]
rs71611466	0.81[ASN][1000 genomes]
rs72814640	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72814653	0.84[ASN][1000 genomes]
rs72814655	0.83[ASN][1000 genomes]
rs72814656	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72814671	0.81[ASN][1000 genomes]
rs7442757	0.81[ASN][1000 genomes]
rs7443212	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7444416	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7446411	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708433	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7722023	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178236800-178255800	Weak transcription	K562	blood
2	chr5:178241200-178252400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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