Variant report

Variant	rs17621537
Chromosome Location	chr3:24628581-24628582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24534559..24538540-chr3:24625678..24628650,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228791	Chromatin interaction
ENSG00000151090	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11129154	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709849	0.83[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes]
rs12487267	0.95[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12490602	0.85[AMR][1000 genomes]
rs12496683	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]
rs12632106	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12634948	0.91[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12635598	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13064705	0.83[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs13067980	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13068136	0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13089994	0.93[AMR][1000 genomes]
rs17542646	0.91[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17543143	1.00[LWK][hapmap]
rs17614600	0.85[AMR][1000 genomes]
rs17620579	0.90[CEU][hapmap];0.94[JPT][hapmap]
rs1808770	0.85[AMR][1000 genomes]
rs34241544	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35878395	0.90[AMR][1000 genomes]
rs4015362	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4577409	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858624	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858625	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs892941	0.87[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.85[AMR][1000 genomes]
rs9818012	0.95[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9840707	0.84[CEU][hapmap]

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
rs17621537	AZI2	cis	cerebellum	SCAN

Chromatin state (count:16 , 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	chr3:24625000-24629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:24625000-24629400	Weak transcription	Psoas Muscle	Psoas
6	chr3:24625000-24630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:24625200-24629800	Weak transcription	Stomach Mucosa	stomach
8	chr3:24627800-24628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:24628000-24628800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:24628200-24629600	Enhancers	Fetal Intestine Small	intestine
11	chr3:24628400-24628600	Enhancers	Fetal Intestine Large	intestine
12	chr3:24628400-24628600	Enhancers	Fetal Lung	lung
13	chr3:24628400-24628600	Enhancers	Lung	lung
14	chr3:24628400-24628600	Enhancers	Pancreas	Pancrea
15	chr3:24628400-24628800	Enhancers	Left Ventricle	heart
16	chr3:24628400-24628800	Enhancers	Skeletal Muscle Female	skeletal muscle

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