Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:172094490..172096285-chr1:172096649..172098491,2	MCF-7	breast:
2	chr1:172095415..172097843-chr1:172105247..172107080,2	MCF-7	breast:
3	chr1:172092505..172094396-chr1:172096100..172097958,2	K562	blood:

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

rs_ID	r²[population]
rs11584244	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11584664	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843860	0.84[ASN][1000 genomes]
rs17277008	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17277015	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17346438	0.84[ASN][1000 genomes]
rs17346452	0.84[ASN][1000 genomes]
rs17346473	0.84[ASN][1000 genomes]
rs17350544	0.84[ASN][1000 genomes]
rs17350579	0.84[ASN][1000 genomes]
rs17350586	0.84[ASN][1000 genomes]
rs17361789	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4540689	0.84[ASN][1000 genomes]
rs60077625	0.95[EUR][1000 genomes]
rs61807762	0.84[ASN][1000 genomes]
rs61807763	0.84[ASN][1000 genomes]
rs61807784	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807786	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807787	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694089	0.84[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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11589349	DNM3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:172062400-172109200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:172069200-172102000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:172077200-172110600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:172077400-172099400	Weak transcription	Fetal Brain Female	brain
6	chr1:172085600-172097000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:172085800-172113400	Weak transcription	Pancreas	Pancrea
8	chr1:172090000-172109600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:172090400-172108800	Weak transcription	Fetal Stomach	stomach
10	chr1:172090800-172102200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:172092000-172102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:172093000-172096800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:172094600-172110600	Weak transcription	Left Ventricle	heart
14	chr1:172095400-172102000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:172095800-172097600	Strong transcription	Brain Anterior Caudate	brain
16	chr1:172096000-172103200	Weak transcription	Gastric	stomach
17	chr1:172096400-172110600	Weak transcription	Brain Substantia Nigra	brain

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