Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47901266..47903549-chr1:47980429..47982950,2	K562	blood:

Variant related genes	Relation type
ENSG00000186564	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10158498	0.89[ASN][1000 genomes]
rs10749868	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10890483	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10890484	0.90[ASN][1000 genomes]
rs10890485	0.90[ASN][1000 genomes]
rs10890487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585530	0.90[YRI][hapmap]
rs12143164	0.81[ASN][1000 genomes]
rs1337527	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1337528	0.91[ASN][1000 genomes]
rs1415541	0.81[ASN][1000 genomes]
rs1572547	0.87[ASN][1000 genomes]
rs1572548	0.90[ASN][1000 genomes]
rs17103342	0.82[YRI][hapmap]
rs2065946	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2065947	0.90[ASN][1000 genomes]
rs2065948	0.90[ASN][1000 genomes]
rs471608	0.80[AFR][1000 genomes]
rs513464	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs518025	0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs578335	0.81[AFR][1000 genomes]
rs635710	0.80[AFR][1000 genomes]
rs663650	0.81[ASN][1000 genomes]
rs6693428	0.80[ASN][1000 genomes]
rs7517146	0.80[ASN][1000 genomes]
rs7528714	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7537527	0.80[ASN][1000 genomes]
rs7540974	0.89[ASN][1000 genomes]
rs7543774	0.90[ASN][1000 genomes]
rs7544826	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7547288	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7552647	0.80[ASN][1000 genomes]
rs7555100	0.81[ASN][1000 genomes]
rs822886	0.81[ASW][hapmap];0.91[YRI][hapmap]

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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1415540	MAST2	cis	cerebellum	SCAN
rs1415540	IPP	cis	cerebellum	SCAN
rs1415540	KNCN	cis	cerebellum	SCAN
rs1415540	CDKN2C	cis	parietal	SCAN
rs1415540	LOC643406	trans	cerebellum	SCAN
rs1415540	FGFRL1	trans	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47976000-47989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47981800-47984200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:47981800-47986600	Weak transcription	Right Atrium	heart

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