Variant report

Variant	rs12549831
Chromosome Location	chr8:52184035-52184036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1003095	0.88[EUR][1000 genomes]
rs10091279	0.89[EUR][1000 genomes]
rs10092020	0.89[EUR][1000 genomes]
rs10094879	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10097749	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10101803	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10102454	0.93[ASN][1000 genomes]
rs10107148	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10110193	0.85[ASN][1000 genomes]
rs10113485	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1017352	0.86[EUR][1000 genomes]
rs1017353	0.86[EUR][1000 genomes]
rs1017354	0.86[EUR][1000 genomes]
rs10958261	0.90[EUR][1000 genomes]
rs11776636	0.83[EUR][1000 genomes]
rs11778440	0.81[EUR][1000 genomes]
rs11778598	0.81[EUR][1000 genomes]
rs11989863	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991037	0.85[ASN][1000 genomes]
rs11993179	0.90[EUR][1000 genomes]
rs1219677	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1219678	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1219680	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1236097	0.86[EUR][1000 genomes]
rs12542121	0.93[ASN][1000 genomes]
rs12543420	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12550267	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1367817	0.85[EUR][1000 genomes]
rs1370443	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370444	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370446	0.85[ASN][1000 genomes]
rs1431619	0.86[EUR][1000 genomes]
rs1431620	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1431621	0.81[EUR][1000 genomes]
rs1431622	0.81[EUR][1000 genomes]
rs1431623	0.81[EUR][1000 genomes]
rs16915954	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16915972	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16916011	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1837086	0.85[ASN][1000 genomes]
rs28417640	0.85[ASN][1000 genomes]
rs28522270	0.86[EUR][1000 genomes]
rs28534083	0.85[ASN][1000 genomes]
rs28805429	0.89[EUR][1000 genomes]
rs2915454	0.85[EUR][1000 genomes]
rs2915456	0.86[EUR][1000 genomes]
rs2915457	0.86[EUR][1000 genomes]
rs2915458	0.80[EUR][1000 genomes]
rs2915460	0.86[EUR][1000 genomes]
rs2915461	0.86[EUR][1000 genomes]
rs2915462	0.86[EUR][1000 genomes]
rs3097705	0.85[EUR][1000 genomes]
rs3097706	0.85[EUR][1000 genomes]
rs35426341	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471026	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873190	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873192	0.85[ASN][1000 genomes]
rs4873533	0.94[ASN][1000 genomes]
rs4873534	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873540	0.85[ASN][1000 genomes]
rs4873542	0.85[ASN][1000 genomes]
rs4873544	0.85[ASN][1000 genomes]
rs4873545	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57224283	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60579236	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60646659	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6473595	0.85[ASN][1000 genomes]
rs67110071	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67134977	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67152383	0.90[EUR][1000 genomes]
rs6981422	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6986651	0.86[ASN][1000 genomes]
rs6992933	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6996951	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6998723	0.93[ASN][1000 genomes]
rs6999446	0.85[ASN][1000 genomes]
rs7000176	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7003720	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008365	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7016775	0.90[EUR][1000 genomes]
rs726127	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs766788	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs766789	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs766790	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7814566	0.85[ASN][1000 genomes]
rs7818710	0.93[ASN][1000 genomes]
rs7821565	0.93[ASN][1000 genomes]
rs7825017	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827306	0.85[ASN][1000 genomes]
rs7827446	0.85[ASN][1000 genomes]
rs7840437	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844531	0.85[ASN][1000 genomes]
rs7844947	0.94[ASN][1000 genomes]
rs7846115	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9298442	0.85[ASN][1000 genomes]
rs9298444	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs972025	0.80[EUR][1000 genomes]
rs972026	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv2764079	chr8:51881783-52202880	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv465679	chr8:51883927-52189796	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv611350	chr8:51883927-52189796	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1030378	chr8:51892949-52191830	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv6189	chr8:52145834-52191132	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	2 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	chr8:52180400-52189400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:52183600-52184200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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