Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110248851..110253829-chr9:110506998..110514501,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	Chromatin interaction

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10979032	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10979034	0.96[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10979036	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs10979037	0.81[CEU][hapmap];0.83[CHB][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10979041	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13285373	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13293393	0.81[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1330150	0.95[JPT][hapmap]
rs1952672	0.83[ASN][1000 genomes]
rs41527445	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs4366140	0.85[AMR][1000 genomes]
rs4376551	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7021668	0.80[ASN][1000 genomes]
rs7857211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs944173	0.92[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427850	chr9:110456613-110632324	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv428221	chr9:110456613-110632324	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv520911	chr9:110504358-110517794	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508561	chr9:110506336-110545367	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4979332	ACTL7A	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110496000-110510800	Weak transcription	Aorta	Aorta
2	chr9:110497400-110510800	Weak transcription	Psoas Muscle	Psoas
3	chr9:110500800-110511600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:110501200-110510600	Weak transcription	Brain Anterior Caudate	brain
5	chr9:110502600-110511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:110503000-110510400	Weak transcription	Right Ventricle	heart
7	chr9:110503000-110510600	Weak transcription	Left Ventricle	heart
8	chr9:110503000-110510800	Weak transcription	Placenta	Placenta
9	chr9:110503000-110511400	Weak transcription	NHLF	lung
10	chr9:110504400-110512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:110505200-110510600	Weak transcription	Adipose Nuclei	Adipose
12	chr9:110505200-110510800	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:110505200-110511400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:110505200-110514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:110505600-110509800	Weak transcription	Ovary	ovary
16	chr9:110507600-110509400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr9:110507800-110513000	Weak transcription	GM12878-XiMat	blood
18	chr9:110509200-110509800	Enhancers	HUVEC	blood vessel
19	chr9:110509200-110511800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr9:110509200-110512400	Enhancers	Spleen	Spleen

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