Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:24639170..24642285-chr3:24644377..24647650,4	K562	blood:
2	chr3:24535750..24538241-chr3:24641210..24643169,2	MCF-7	breast:
3	chr3:24534578..24538584-chr3:24640482..24644285,4	K562	blood:
4	chr3:24633657..24635628-chr3:24639189..24641484,2	MCF-7	breast:
5	chr3:24227147..24228071-chr3:24641147..24641703,2	K562	blood:

Variant related genes	Relation type
ENSG00000228791	Chromatin interaction
ENSG00000151090	Chromatin interaction

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

rs_ID	r²[population]
rs11129154	1.00[ASW][hapmap];0.95[CEU][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11709849	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs12487267	0.94[CEU][hapmap];0.89[AMR][1000 genomes]
rs12490602	0.80[AMR][1000 genomes]
rs12496683	0.86[CEU][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes]
rs12632106	0.89[AMR][1000 genomes]
rs12634948	0.90[CEU][hapmap];0.89[AMR][1000 genomes]
rs12635598	0.80[AMR][1000 genomes]
rs13064705	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs13067980	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13068136	0.89[AMR][1000 genomes]
rs13089994	0.89[AMR][1000 genomes]
rs17542646	0.91[CEU][hapmap];0.89[AMR][1000 genomes]
rs17614600	0.80[AMR][1000 genomes]
rs17620579	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs17621537	0.95[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1808770	0.80[AMR][1000 genomes]
rs34241544	0.89[AMR][1000 genomes]
rs35878395	0.87[AMR][1000 genomes]
rs4015362	0.87[AMR][1000 genomes]
rs4577409	0.89[AMR][1000 genomes]
rs4858624	0.95[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4858625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs892941	0.86[CEU][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes]
rs9840707	0.91[CEU][hapmap]

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	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
rs9818012	AZI2	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24635600-24641400	Enhancers	HMEC	breast
2	chr3:24639400-24641400	Enhancers	Hela-S3	cervix
3	chr3:24639800-24641400	Enhancers	Stomach Mucosa	stomach
4	chr3:24639800-24642000	Enhancers	Fetal Intestine Large	intestine
5	chr3:24639800-24642000	Enhancers	Fetal Intestine Small	intestine
6	chr3:24640000-24642600	Enhancers	Fetal Lung	lung
7	chr3:24640200-24644200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:24640400-24643600	Weak transcription	NHDF-Ad	bronchial
9	chr3:24640400-24645400	Weak transcription	HepG2	liver
10	chr3:24641000-24642400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:24641000-24642600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:24641000-24642800	Weak transcription	Adipose Nuclei	Adipose
13	chr3:24641000-24645600	Weak transcription	Liver	Liver
14	chr3:24641000-24647000	Weak transcription	Small Intestine	intestine

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