Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39182074..39184103-chr2:39243780..39246127,2	K562	blood:
2	chr2:39172326..39176681-chr2:39177531..39182855,6	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10166395	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10166631	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10201980	0.80[EUR][1000 genomes]
rs1037495	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1043793	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12471731	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1531021	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1869513	0.80[EUR][1000 genomes]
rs1947433	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2278913	0.80[EUR][1000 genomes]
rs2305516	0.80[EUR][1000 genomes]
rs2603145	0.81[ASN][1000 genomes]
rs371745	0.82[EUR][1000 genomes]
rs422854	0.84[ASN][1000 genomes]
rs4670269	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4670901	0.80[EUR][1000 genomes]
rs4670902	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4670904	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6544184	0.80[EUR][1000 genomes]
rs6544186	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6704656	0.80[EUR][1000 genomes]
rs6716101	0.80[EUR][1000 genomes]
rs7571052	0.80[EUR][1000 genomes]
rs7582918	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs963730	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs672208	SOS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
4	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
5	chr2:39163800-39183600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:39175000-39186600	Weak transcription	Ovary	ovary
7	chr2:39175000-39187000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:39175200-39186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:39176600-39186600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:39176800-39184200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:39181600-39184800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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