Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116547924..116550136-chr9:116554230..116555863,2	K562	blood:

Variant related genes	Relation type
ENSG00000211556	Chromatin interaction

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

rs_ID	r²[population]
rs10429635	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10817520	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10981921	0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10981922	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981924	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981941	0.88[ASN][1000 genomes]
rs10981981	0.80[CEU][hapmap];0.89[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap]
rs12376085	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12380863	0.93[ASN][1000 genomes]
rs12554801	0.85[ASN][1000 genomes]
rs12555454	0.82[ASN][1000 genomes]
rs1409382	0.81[ASN][1000 genomes]
rs4979283	0.93[EUR][1000 genomes]
rs59045685	0.80[EUR][1000 genomes]
rs7030996	0.80[EUR][1000 genomes]
rs7031010	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7035099	0.88[ASN][1000 genomes]
rs913080	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs960957	0.91[EUR][1000 genomes]
rs987073	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10981925	EPB41L4B	cis	cerebellum	SCAN
rs10981925	FKBP15	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116539000-116551400	Weak transcription	Fetal Kidney	kidney
2	chr9:116543200-116550200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:116547600-116549000	Enhancers	Spleen	Spleen
4	chr9:116547800-116549000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr9:116548400-116548800	Bivalent Enhancer	Fetal Stomach	stomach
6	chr9:116548400-116550000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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