Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75407698..75409823-chr11:75412670..75416141,3	K562	blood:
2	chr11:75307021..75309521-chr11:75412283..75414040,2	K562	blood:

Variant related genes	Relation type
ENSG00000255434	Chromatin interaction

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

rs_ID	r²[population]
rs12787057	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12788163	0.86[ASN][1000 genomes]
rs12792816	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12793003	0.83[ASN][1000 genomes]
rs17310982	0.82[CHB][hapmap];0.92[GIH][hapmap];0.81[MEX][hapmap];0.84[AMR][1000 genomes]
rs2015782	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2511005	1.00[YRI][hapmap]
rs4944085	0.82[CHB][hapmap];0.92[GIH][hapmap];0.82[AMR][1000 genomes]
rs4945024	0.82[AMR][1000 genomes]
rs4945025	0.92[CHD][hapmap];0.83[ASN][1000 genomes]
rs570559	0.83[AMR][1000 genomes]
rs57398723	0.82[AMR][1000 genomes]
rs584046	1.00[ASW][hapmap];0.81[LWK][hapmap];0.83[AMR][1000 genomes]
rs601293	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61329757	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61544743	0.82[AMR][1000 genomes]
rs617449	1.00[YRI][hapmap]
rs61897968	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897970	0.86[ASN][1000 genomes]
rs642002	0.82[YRI][hapmap]
rs664133	1.00[ASW][hapmap];0.93[LWK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs683195	0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs684644	0.82[AMR][1000 genomes]
rs7120248	0.82[CHB][hapmap];0.92[GIH][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes]
rs7127841	0.86[ASN][1000 genomes]
rs7127973	0.82[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1368135	USP35	cis	cerebellum	SCAN
rs1368135	MYO7A	cis	cerebellum	SCAN
rs1368135	NUMA1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75410200-75417000	Weak transcription	Fetal Intestine Large	intestine
2	chr11:75412000-75417200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:75412200-75416600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:75412200-75417200	Weak transcription	Adipose Nuclei	Adipose
5	chr11:75412400-75417200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:75412400-75417200	Weak transcription	Fetal Heart	heart
7	chr11:75412800-75413200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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