Variant report

Variant	rs57512468
Chromosome Location	chr9:72172355-72172356
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72170921..72173288-chr9:72491881..72494788,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11139414	1.00[EUR][1000 genomes]
rs11999656	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12000827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000908	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12006272	0.85[EUR][1000 genomes]
rs12552474	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12553894	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12553941	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12554978	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12555100	1.00[EUR][1000 genomes]
rs1411439	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411441	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411442	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3927537	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4636268	0.85[EUR][1000 genomes]
rs56654380	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58638129	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58667541	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58898534	1.00[EUR][1000 genomes]
rs59791186	0.97[EUR][1000 genomes]
rs60759202	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7036538	0.85[EUR][1000 genomes]
rs72717199	0.85[EUR][1000 genomes]
rs72719005	0.85[EUR][1000 genomes]
rs72719017	0.85[EUR][1000 genomes]
rs72719024	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647250	0.85[EUR][1000 genomes]
rs73647252	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647254	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647255	1.00[EUR][1000 genomes]
rs73647256	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647257	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647259	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647260	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647261	0.93[EUR][1000 genomes]
rs73647262	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647263	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647264	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647265	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73647266	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7849601	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7861451	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1049390	chr9:72168645-72185751	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72163200-72185600	Weak transcription	Aorta	Aorta
2	chr9:72164400-72172400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:72164400-72172400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:72170200-72184200	Weak transcription	Ovary	ovary
5	chr9:72170400-72176000	Weak transcription	Fetal Kidney	kidney
6	chr9:72170600-72175200	Weak transcription	Liver	Liver
7	chr9:72171000-72172600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:72171400-72172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:72171400-72180000	Weak transcription	Right Atrium	heart
10	chr9:72171800-72172600	Enhancers	NHEK	skin

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