Variant report

Variant	rs57342147
Chromosome Location	chr12:50129422-50129423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr12:50129243-50129450	K562	blood:	n/a	n/a
2	POLR2A	chr12:50129309-50129434	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr12:50129314-50129431	GM12878	blood:	n/a	n/a
4	EP300	chr12:50129277-50129459	GM12878	blood:	n/a	n/a
5	SPI1	chr12:50129321-50129438	GM12878	blood:	n/a	n/a
6	FOXA1	chr12:50129326-50129721	HepG2	liver:	n/a	chr12:50129589-50129604
7	GABPA	chr12:50129320-50129425	Hela-S3	cervix:	n/a	n/a
8	FOXA1	chr12:50129377-50129722	HepG2	liver:	n/a	chr12:50129589-50129604
9	USF1	chr12:50129290-50129435	HepG2	liver:	n/a	n/a
10	ZBTB33	chr12:50129245-50129472	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50126958..50129574-chr12:50137567..50139944,2	K562	blood:
2	chr12:50123501..50125274-chr12:50128221..50130200,2	K562	blood:
3	chr12:50123032..50130125-chr12:50133371..50137777,14	K562	blood:

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1049986	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875964	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875968	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169069	0.83[ASN][1000 genomes]
rs11169070	0.82[AMR][1000 genomes]
rs11169073	0.83[ASN][1000 genomes]
rs11169076	0.83[ASN][1000 genomes]
rs11169081	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11169082	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11169092	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169097	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169101	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169104	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169106	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169109	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169111	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169112	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169113	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11169118	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169125	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169127	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169133	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169140	0.87[AMR][1000 genomes]
rs11615488	0.92[ASN][1000 genomes]
rs11833411	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834380	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296586	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299505	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12299513	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301824	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12303310	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304796	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12305460	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12308256	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309940	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310510	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311839	0.83[ASN][1000 genomes]
rs12314795	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314878	0.83[ASN][1000 genomes]
rs12315224	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315791	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316284	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12317646	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320556	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12321169	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12321819	0.83[ASN][1000 genomes]
rs13066	0.83[ASN][1000 genomes]
rs13906	0.83[ASN][1000 genomes]
rs1470906	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574326	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123808	0.83[ASN][1000 genomes]
rs2005195	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2241418	0.83[ASN][1000 genomes]
rs2278068	0.83[ASN][1000 genomes]
rs2278069	0.83[ASN][1000 genomes]
rs2278070	0.80[ASN][1000 genomes]
rs2303305	0.80[ASN][1000 genomes]
rs2336058	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878532	0.83[AMR][1000 genomes]
rs3815832	0.83[ASN][1000 genomes]
rs3887728	0.83[ASN][1000 genomes]
rs4045193	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4133070	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584654	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs52824916	0.80[ASN][1000 genomes]
rs55853522	0.83[ASN][1000 genomes]
rs57191490	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57463238	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57916875	0.80[ASN][1000 genomes]
rs58278271	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58446833	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59233136	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59849800	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59940006	0.83[ASN][1000 genomes]
rs60121503	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60402517	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61616163	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61620972	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710637	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580719	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131915	0.83[ASN][1000 genomes]
rs7136052	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137976	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296281	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7299002	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301209	0.83[ASN][1000 genomes]
rs7306877	0.83[ASN][1000 genomes]
rs7309607	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7312658	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7313738	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305008	0.83[ASN][1000 genomes]
rs73305012	0.83[ASN][1000 genomes]
rs73305085	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73305098	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306808	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309030	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74089182	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7688	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952734	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953911	0.83[ASN][1000 genomes]
rs7954994	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955586	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956089	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956181	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962645	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962863	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7963954	0.89[ASN][1000 genomes]
rs7965658	0.81[ASN][1000 genomes]
rs7967624	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970241	0.83[ASN][1000 genomes]
rs7973389	0.83[ASN][1000 genomes]
rs7975599	0.83[ASN][1000 genomes]
rs7977389	0.83[ASN][1000 genomes]
rs7979262	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980979	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876889	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs897056	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804749	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804971	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr12:50127400-50129600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:50128000-50134600	Weak transcription	HepG2	liver
3	chr12:50128200-50134200	Weak transcription	Liver	Liver

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