Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:26856522-26856565	K562	blood:	n/a	n/a

Variant related genes	Relation type
STIM2	TF binding region

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12644232	0.81[ASN][1000 genomes]
rs12648597	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13129075	0.80[ASN][1000 genomes]
rs28445387	0.83[EUR][1000 genomes]
rs28704572	0.81[ASN][1000 genomes]
rs3924177	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4133239	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4259045	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376128	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4692128	0.83[EUR][1000 genomes]
rs4692129	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4692131	0.95[ASN][1000 genomes]
rs6448478	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6448480	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6448481	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6448482	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6448483	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6448485	0.95[ASN][1000 genomes]
rs6830323	0.83[EUR][1000 genomes]
rs6830424	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6831605	0.81[ASN][1000 genomes]
rs6847438	0.82[ASN][1000 genomes]
rs7666651	0.91[ASN][1000 genomes]
rs7678576	0.83[EUR][1000 genomes]
rs7692953	0.81[ASN][1000 genomes]
rs9998368	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26840000-26858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:26841400-26858600	Weak transcription	Aorta	Aorta
3	chr4:26841600-26858600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:26842400-26858800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:26843400-26858400	Weak transcription	Thymus	Thymus
6	chr4:26850200-26858800	Weak transcription	HSMM	muscle
7	chr4:26851600-26858600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:26856200-26857000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:26856400-26856600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:26856400-26856800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:26856400-26856800	Enhancers	Fetal Brain Female	brain

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