Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142712027..142714851-chr3:142718551..142721851,5	MCF-7	breast:
2	chr3:142712990..142716518-chr3:142718325..142722813,5	K562	blood:

Variant related genes	Relation type
ENSG00000163714	Chromatin interaction
ENSG00000268129	Chromatin interaction

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

rs_ID	r²[population]
rs10935475	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11915462	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11922201	0.82[EUR][1000 genomes]
rs12492904	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12695770	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1375814	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1532588	0.80[EUR][1000 genomes]
rs1545597	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17557029	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1814565	0.82[EUR][1000 genomes]
rs1965343	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2124541	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2124542	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2124543	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2290549	0.82[EUR][1000 genomes]
rs3902877	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6770102	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6778454	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6781080	0.80[AMR][1000 genomes]
rs766360	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10935474	SR140	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142707000-142715200	Weak transcription	Hela-S3	cervix
2	chr3:142707000-142716200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:142707000-142718800	Weak transcription	Right Ventricle	heart
4	chr3:142710200-142718600	Weak transcription	GM12878-XiMat	blood
5	chr3:142711000-142718400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:142713000-142715200	Weak transcription	K562	blood
7	chr3:142713000-142716200	Weak transcription	Adipose Nuclei	Adipose
8	chr3:142713000-142718600	Weak transcription	A549	lung
9	chr3:142713200-142715400	Weak transcription	HepG2	liver
10	chr3:142713400-142716200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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