Variant report

Variant	rs12284808
Chromosome Location	chr11:66773581-66773582
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	CEBPB	chr11:66773547-66773747	H1-hESC	embryonic stem cell:	n/a	chr11:66773706-66773717
2	CEBPB	chr11:66773547-66773848	K562	blood:	n/a	chr11:66773706-66773717
3	CEBPB	chr11:66773533-66773831	HepG2	liver:	n/a	chr11:66773706-66773717
4	CEBPB	chr11:66773564-66773815	Hela-S3	cervix:	n/a	chr11:66773706-66773717
5	CEBPB	chr11:66773556-66773831	A549	lung:	n/a	chr11:66773706-66773717

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66761490..66778711-chr11:66821814..66832221,36	MCF-7	breast:
2	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:

Variant related genes	Relation type
SYT12	TF binding region
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10160663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10896146	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10896147	1.00[EUR][1000 genomes]
rs10896148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12222286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270068	0.84[ASW][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273240	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12274897	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12275124	0.96[AFR][1000 genomes]
rs12275370	1.00[ASW][hapmap];0.83[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12276046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277065	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12277720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279585	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281292	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12281335	1.00[EUR][1000 genomes]
rs12281512	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12282433	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12282440	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12284422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285661	1.00[EUR][1000 genomes]
rs12287658	1.00[ASW][hapmap];0.83[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12288309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288354	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12290308	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12290429	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12290836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293275	1.00[ASW][hapmap];0.83[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12788732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56173916	1.00[EUR][1000 genomes]
rs56973649	1.00[EUR][1000 genomes]
rs57604888	1.00[EUR][1000 genomes]
rs57946225	1.00[EUR][1000 genomes]
rs60751057	1.00[EUR][1000 genomes]
rs7109580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128943	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73493529	1.00[EUR][1000 genomes]
rs73493531	1.00[EUR][1000 genomes]
rs73501797	1.00[EUR][1000 genomes]
rs73501800	1.00[EUR][1000 genomes]
rs7924894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925264	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7941982	1.00[ASW][hapmap];1.00[EUR][1000 genomes]
rs7942885	1.00[EUR][1000 genomes]
rs7948985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66767000-66773800	Weak transcription	K562	blood
2	chr11:66770600-66773800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:66770600-66773800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:66770600-66773800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:66770600-66774000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:66770600-66774000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:66770600-66774200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:66770800-66773800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:66770800-66773800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66771000-66773800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:66771000-66773800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:66771000-66773800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:66771000-66774000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:66771000-66774000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:66771800-66773800	Weak transcription	A549	lung
16	chr11:66771800-66773800	Weak transcription	HepG2	liver
17	chr11:66772000-66773600	Weak transcription	Hela-S3	cervix
18	chr11:66772600-66776400	Weak transcription	Liver	Liver
19	chr11:66773200-66773600	Enhancers	Adipose Nuclei	Adipose
20	chr11:66773200-66773600	Enhancers	Placenta	Placenta
21	chr11:66773200-66774800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:66773400-66773600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:66773400-66773600	Enhancers	Osteobl	bone
24	chr11:66773400-66773800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:66773400-66773800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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