Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17906120..17907776-chr3:17908780..17910859,3	K562	blood:
2	chr3:17906078..17908797-chr3:17918254..17919756,2	K562	blood:

Variant related genes	Relation type
ENSG00000214286	Chromatin interaction

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

rs_ID	r²[population]
rs1025393	0.80[EUR][1000 genomes]
rs12053996	0.81[EUR][1000 genomes]
rs12493277	0.88[CHB][hapmap]
rs12638630	0.83[EUR][1000 genomes]
rs13320315	0.80[EUR][1000 genomes]
rs1346885	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1346886	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430885	0.82[EUR][1000 genomes]
rs1430886	0.81[EUR][1000 genomes]
rs17273209	0.81[EUR][1000 genomes]
rs2217481	0.84[EUR][1000 genomes]
rs4908990	0.87[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs4908991	0.83[EUR][1000 genomes]
rs4908993	0.81[EUR][1000 genomes]
rs56326543	0.84[EUR][1000 genomes]
rs6577604	0.84[ASN][1000 genomes]
rs6793262	0.89[GIH][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap]
rs9310534	0.84[EUR][1000 genomes]
rs9814647	0.81[ASN][1000 genomes]
rs9819634	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999594	chr3:17690416-17982318	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1019848	C3orf20	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17903400-17913600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:17904200-17908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:17904200-17908600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:17904200-17936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:17904400-17908600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:17904800-17909400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:17905600-17909000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:17906400-17907200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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