Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:24548678..24551507-chr3:24625881..24628494,2	MCF-7	breast:
2	chr3:24535816..24538509-chr3:24621418..24627791,6	MCF-7	breast:
3	chr3:24622288..24625025-chr3:24625704..24628070,2	K562	blood:
4	chr3:24619509..24621615-chr3:24625396..24628167,4	K562	blood:
5	chr3:24534559..24538540-chr3:24625678..24628650,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151090	Chromatin interaction
ENSG00000228791	Chromatin interaction

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

rs_ID	r²[population]
rs11129154	0.92[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11709849	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs12487267	0.85[CEU][hapmap]
rs12490602	0.80[EUR][1000 genomes]
rs12634948	0.82[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs12635598	0.80[EUR][1000 genomes]
rs13064705	0.92[CEU][hapmap]
rs13067980	0.85[ASN][1000 genomes]
rs13068136	0.83[JPT][hapmap]
rs17542646	0.83[CEU][hapmap]
rs17620579	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs17621537	0.92[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1808770	0.80[EUR][1000 genomes]
rs35541876	0.87[AMR][1000 genomes]
rs4015362	0.84[ASN][1000 genomes]
rs4858624	0.92[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4858625	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs892941	0.91[CEU][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap]
rs9818012	0.86[CEU][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes]
rs9840707	0.92[CEU][hapmap];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834641	chr3:24465862-24633738	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv999384	chr3:24525345-24656873	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12496683	AZI2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24618000-24629600	Weak transcription	Right Atrium	heart
2	chr3:24621200-24633400	Weak transcription	K562	blood
3	chr3:24624000-24629200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:24625000-24628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:24625000-24629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:24625000-24629400	Weak transcription	Psoas Muscle	Psoas
7	chr3:24625000-24630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:24625200-24629800	Weak transcription	Stomach Mucosa	stomach
9	chr3:24625400-24628200	Weak transcription	Fetal Intestine Small	intestine
10	chr3:24626000-24628400	Weak transcription	Fetal Intestine Large	intestine
11	chr3:24627400-24627600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:24627400-24627800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:24627400-24628200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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