Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:120010480-120010641	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr11:120010368-120010682	H1-hESC	embryonic stem cell:	n/a	chr11:120010604-120010613 chr11:120010602-120010614 chr11:120010603-120010612 chr11:120010603-120010617

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119990134..119993227-chr11:120007102..120010731,5	MCF-7	breast:
2	chr11:119992107..119994567-chr11:120009192..120013001,3	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12420591	0.86[EUR][1000 genomes]
rs1349688	1.00[ASN][1000 genomes]
rs17311212	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2084897	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2084898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084899	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511023	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4938783	1.00[ASN][1000 genomes]
rs55920307	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56339619	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs569044	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60336713	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66553012	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7114201	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7116650	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7119954	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73004754	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73004764	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73004786	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73004793	0.89[AMR][1000 genomes];0.89[EUR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56391092	OAF	cis	Thyroid	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120007200-120021400	Weak transcription	Right Atrium	heart
2	chr11:120008800-120010600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:120009200-120012000	Weak transcription	Stomach Mucosa	stomach
4	chr11:120009400-120010600	Enhancers	NHEK	skin
5	chr11:120009400-120010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:120009400-120010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:120009600-120010600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120009600-120010800	Enhancers	Esophagus	oesophagus
9	chr11:120010200-120010600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:120010200-120012800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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