Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:172059201..172061771-chr1:172370034..172372067,2	MCF-7	breast:
2	chr1:172057858..172060800-chr1:172327369..172328971,2	MCF-7	breast:
3	chr1:172047980..172049973-chr1:172059181..172061869,2	K562	blood:
4	chr1:172057250..172060072-chr1:172060422..172061961,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10442603	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs10797736	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10910938	0.81[EUR][1000 genomes]
rs10910945	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911101	0.80[ASN][1000 genomes]
rs10911111	0.82[JPT][hapmap]
rs10911124	0.82[JPT][hapmap]
rs10911125	0.82[JPT][hapmap]
rs12117623	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1475230	0.82[JPT][hapmap]
rs1475231	0.82[JPT][hapmap]
rs2421987	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs4076678	0.80[EUR][1000 genomes]
rs4333881	0.80[EUR][1000 genomes]
rs4489594	0.81[EUR][1000 genomes]
rs4604727	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs6413836	0.97[ASN][1000 genomes]
rs6425600	0.80[EUR][1000 genomes]
rs72719073	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72719075	0.96[ASN][1000 genomes]
rs7519823	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12119190	SPINT2	trans	lymphoblastoid	seeQTL
rs12119190	METTL13	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172040600-172076600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172041200-172060800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:172041400-172061600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:172041600-172061800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:172041800-172061200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:172046600-172076800	Weak transcription	Fetal Brain Female	brain
7	chr1:172048000-172083800	Weak transcription	Aorta	Aorta
8	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:172052400-172060800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:172052400-172091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:172057800-172074000	Weak transcription	Fetal Lung	lung
12	chr1:172059600-172064800	Weak transcription	Fetal Stomach	stomach
13	chr1:172060000-172061600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:172060000-172062000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:172060600-172060800	Enhancers	Ovary	ovary

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