Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141581679..141583852-chr3:141595457..141597866,2	K562	blood:
2	chr3:141581516..141585437-chr3:141593335..141595315,3	K562	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1072982	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13076111	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1560412	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1560413	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2068230	0.83[EUR][1000 genomes]
rs2115937	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4441632	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683645	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440043	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440044	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6440047	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440049	0.84[EUR][1000 genomes]
rs6440050	0.83[EUR][1000 genomes]
rs6767095	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6773700	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6790923	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7613107	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7622417	0.83[EUR][1000 genomes]
rs7639052	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9829502	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9859932	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv965218	chr3:141580574-141584429	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6767302	ATP1B3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141579400-141583200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:141579800-141583800	Weak transcription	Lung	lung
3	chr3:141580000-141584000	Weak transcription	Right Ventricle	heart
4	chr3:141580800-141588600	Weak transcription	HUVEC	blood vessel
5	chr3:141581800-141585400	Weak transcription	K562	blood
6	chr3:141582600-141583000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr3:141582600-141583400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr3:141582800-141583000	Enhancers	Left Ventricle	heart
9	chr3:141582800-141583000	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr3:141582800-141583400	Enhancers	Primary hematopoietic stem cells	blood

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