Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172053276..172056114-chr1:172063013..172064771,2	MCF-7	breast:
2	chr1:172041597..172044027-chr1:172053776..172055843,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10218642	0.91[ASN][1000 genomes]
rs12561987	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12562173	0.91[ASN][1000 genomes]
rs12562275	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12562403	0.86[ASN][1000 genomes]
rs12568723	0.94[ASN][1000 genomes]
rs12568908	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12569236	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12569310	0.86[ASN][1000 genomes]
rs16843801	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16843816	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16843819	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16843820	0.86[ASN][1000 genomes]
rs16843827	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16843831	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16843837	0.86[ASN][1000 genomes]
rs16843841	0.86[ASN][1000 genomes]
rs16843842	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3924561	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4264026	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4916420	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73039343	0.83[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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172038200-172058800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:172040600-172076600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:172041200-172060800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:172041400-172061600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:172041600-172061800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:172041800-172061200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:172046600-172076800	Weak transcription	Fetal Brain Female	brain
8	chr1:172048000-172083800	Weak transcription	Aorta	Aorta
9	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:172049600-172059400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:172049800-172058400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:172052400-172057400	Weak transcription	Fetal Lung	lung
13	chr1:172052400-172059000	Weak transcription	NHEK	skin
14	chr1:172052400-172060800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:172052400-172091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:172054600-172057200	Weak transcription	Fetal Stomach	stomach
17	chr1:172055000-172055600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:172055000-172056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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