Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:54784126..54785998-chr2:54916607..54919364,2	K562	blood:
2	chr2:54902287..54904754-chr2:54917097..54919271,2	K562	blood:
3	chr2:54783616..54785998-chr2:54916607..54919364,3	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1027950	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12611806	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12612665	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12620195	0.83[ASN][1000 genomes]
rs12622340	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1510612	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17046153	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1848923	0.84[EUR][1000 genomes]
rs2007020	0.91[ASN][1000 genomes]
rs2567837	0.91[ASN][1000 genomes]
rs354188	0.92[ASN][1000 genomes]
rs354215	0.93[ASN][1000 genomes]
rs4671229	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4671966	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671968	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6738725	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618664	0.82[AMR][1000 genomes]
rs72618665	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618666	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72618667	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618668	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72618669	0.80[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv963149	chr2:54914350-54920863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56898160	EML6	cis	Artery Tibial	GTEx
rs56898160	SPTBN1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54908800-54921400	Weak transcription	Lung	lung
2	chr2:54918600-54919400	Enhancers	Fetal Intestine Small	intestine
3	chr2:54918600-54919600	Enhancers	Fetal Intestine Large	intestine
4	chr2:54918600-54919600	Enhancers	HepG2	liver
5	chr2:54918600-54919600	Enhancers	K562	blood
6	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:54919000-54919400	Enhancers	Gastric	stomach
10	chr2:54919000-54919600	Enhancers	Pancreas	Pancrea

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