Variant report

Variant	rs56272102
Chromosome Location	chr6:133194383-133194384
allele	G/T
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	ATF2	chr6:133193931-133194492	GM12878	blood:	n/a	n/a
2	STAT1	chr6:133194233-133194412	GM12878	blood:	n/a	chr6:133194315-133194326
3	BHLHE40	chr6:133194025-133194472	GM12878	blood:	n/a	n/a
4	IRF4	chr6:133194123-133194479	GM12878	blood:	n/a	n/a
5	ATF2	chr6:133194006-133194485	GM12878	blood:	n/a	n/a
6	RELA	chr6:133194072-133194461	GM12878	blood:	n/a	n/a
7	FOXM1	chr6:133194009-133194448	GM12878	blood:	n/a	n/a
8	BATF	chr6:133194097-133194391	GM12878	blood:	n/a	n/a
9	NFIC	chr6:133194000-133194526	GM12878	blood:	n/a	n/a
10	CREB1	chr6:133194018-133194464	GM12878	blood:	n/a	n/a
11	POU2F2	chr6:133193981-133194502	GM12878	blood:	n/a	n/a
12	RUNX3	chr6:133193998-133194520	GM12878	blood:	n/a	chr6:133194237-133194254
13	MEF2A	chr6:133194058-133194400	GM12878	blood:	n/a	n/a
14	EBF1	chr6:133194100-133194610	GM12878	blood:	n/a	n/a
15	POU2F2	chr6:133194035-133194425	GM12891	blood:	n/a	n/a
16	BCL11A	chr6:133194142-133194427	GM12878	blood:	n/a	n/a
17	MEF2A	chr6:133193941-133194406	GM12878	blood:	n/a	n/a
18	SP1	chr6:133194069-133194419	GM12878	blood:	n/a	n/a
19	BCL3	chr6:133194053-133194422	GM12878	blood:	n/a	n/a
20	BCL11A	chr6:133194064-133194445	GM12878	blood:	n/a	n/a
21	EP300	chr6:133194077-133194520	GM12878	blood:	n/a	chr6:133194317-133194331
22	SREBP1	chr6:133193777-133194776	GM12878	blood:	n/a	n/a
23	IRF4	chr6:133194087-133194491	GM12878	blood:	n/a	n/a
24	EP300	chr6:133194083-133194505	GM12878	blood:	n/a	chr6:133194317-133194331
25	BCLAF1	chr6:133193917-133194525	GM12878	blood:	n/a	n/a
26	TBL1XR1	chr6:133194037-133194482	GM12878	blood:	n/a	n/a
27	BATF	chr6:133194104-133194445	GM12878	blood:	n/a	n/a
28	MTA3	chr6:133194048-133194543	GM12878	blood:	n/a	n/a
29	PAX5	chr6:133194014-133194582	GM12878	blood:	n/a	n/a
30	POU2F2	chr6:133194099-133194412	GM12891	blood:	n/a	n/a
31	POU2F2	chr6:133194076-133194452	GM12878	blood:	n/a	n/a
32	NFIC	chr6:133193973-133194484	GM12878	blood:	n/a	n/a
33	CREB1	chr6:133194098-133194491	GM12878	blood:	n/a	n/a
34	RUNX3	chr6:133193968-133194528	GM12878	blood:	n/a	chr6:133194237-133194254
35	RCOR1	chr6:133194087-133194453	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133193166..133197138-chr6:133198506..133201080,4	K562	blood:

Variant related genes	Relation type
HMGB1P13	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11961405	1.00[AMR][1000 genomes]
rs11962777	0.82[AFR][1000 genomes]
rs11964612	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966336	1.00[AMR][1000 genomes]
rs11966419	1.00[AMR][1000 genomes]
rs55634221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55736382	0.82[AFR][1000 genomes]
rs55739774	0.87[AFR][1000 genomes]
rs55757918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55927079	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55937207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56078645	0.80[AFR][1000 genomes]
rs56195831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56253921	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56321429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56335598	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347679	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57507997	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58066256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58267486	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58879755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58969189	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59494178	1.00[AMR][1000 genomes]
rs60308475	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60864827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61019706	0.87[AFR][1000 genomes]
rs61588260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772946	0.80[AFR][1000 genomes]
rs73772948	0.87[AFR][1000 genomes]
rs73772954	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772961	1.00[AMR][1000 genomes]
rs73772965	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772966	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772967	0.92[AFR][1000 genomes]
rs73772969	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772973	1.00[AMR][1000 genomes]
rs73772974	1.00[AMR][1000 genomes]
rs73772975	1.00[AMR][1000 genomes]
rs73772978	1.00[AMR][1000 genomes]
rs73772979	1.00[AMR][1000 genomes]
rs73772980	1.00[AMR][1000 genomes]
rs73772981	1.00[AMR][1000 genomes]
rs73772982	1.00[AMR][1000 genomes]
rs73772984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772985	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772998	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773001	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73777004	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7743148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755395	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7763296	1.00[AMR][1000 genomes]
rs7768374	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7768800	1.00[AFR][1000 genomes];1.00[AMR][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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv869855	chr6:133190265-133244259	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:133193400-133194800	Enhancers	GM12878-XiMat	blood
2	chr6:133193800-133194600	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:133194200-133194600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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