Variant report

Variant	rs11130161
Chromosome Location	chr3:48259631-48259632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48257660..48261585-chr3:48263263..48266797,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164047	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12633518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1380053	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes]
rs1459247	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1870441	1.00[YRI][hapmap]
rs34146962	0.81[EUR][1000 genomes]
rs34373799	0.81[EUR][1000 genomes]
rs3731532	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3731539	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs3731547	1.00[YRI][hapmap]
rs4858818	1.00[YRI][hapmap]
rs57994790	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58582477	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60305502	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6442101	0.92[YRI][hapmap]
rs6803741	1.00[YRI][hapmap]
rs73831561	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73831563	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73831566	0.81[EUR][1000 genomes]
rs876597	0.82[ASW][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs9825114	1.00[YRI][hapmap]
rs9852211	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs986742	0.82[ASW][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11130161	ZNF589	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48251800-48264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48255800-48260000	Enhancers	Spleen	Spleen
3	chr3:48255800-48261600	Enhancers	Adipose Nuclei	Adipose
4	chr3:48256200-48261600	Enhancers	Ovary	ovary
5	chr3:48256400-48260600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:48256600-48260000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:48257400-48263400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:48257600-48264800	Weak transcription	Hela-S3	cervix
9	chr3:48257800-48272400	Weak transcription	Stomach Mucosa	stomach
10	chr3:48258200-48262800	Weak transcription	Left Ventricle	heart
11	chr3:48258200-48263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:48258200-48264000	Weak transcription	Esophagus	oesophagus
13	chr3:48258800-48259800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:48258800-48260000	Enhancers	Right Atrium	heart
15	chr3:48258800-48261000	Enhancers	Primary B cells from cord blood	blood
16	chr3:48259000-48260200	Enhancers	HepG2	liver
17	chr3:48259400-48261000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:48259400-48263600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:48259400-48265000	Weak transcription	Pancreas	Pancrea
20	chr3:48259400-48267400	Weak transcription	Right Ventricle	heart
21	chr3:48259600-48261400	Weak transcription	Lung	lung
22	chr3:48259600-48262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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