Variant report

Variant	rs58631543
Chromosome Location	chr5:124788440-124788441
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	chr5:124787637..124789614-chr5:124795687..124797598,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1554281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55717300	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56707415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56821497	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56835569	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56988571	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57118683	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57123863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57697012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58338793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58917396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59000628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59380738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60214755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61304237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61472360	1.00[AMR][1000 genomes]
rs6595615	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866980	1.00[ASN][1000 genomes]
rs6868024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875057	1.00[ASN][1000 genomes]
rs6875229	1.00[ASN][1000 genomes]
rs6878929	1.00[AMR][1000 genomes]
rs6883449	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6883628	1.00[AMR][1000 genomes]
rs6884059	1.00[AMR][1000 genomes]
rs6884354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887469	1.00[ASN][1000 genomes]
rs6890153	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894842	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303305	1.00[ASN][1000 genomes]
rs73303332	1.00[AMR][1000 genomes]
rs73303334	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303374	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303384	1.00[AMR][1000 genomes]
rs73303399	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305308	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305337	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305339	1.00[AMR][1000 genomes]
rs73305342	1.00[AMR][1000 genomes]
rs73305344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305345	1.00[AMR][1000 genomes]
rs73321473	1.00[ASN][1000 genomes]
rs7702589	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725952	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729702	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729817	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7730376	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730445	1.00[AMR][1000 genomes]
rs7732317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124785600-124789000	Enhancers	Fetal Brain Male	brain
2	chr5:124787200-124790400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:124787600-124797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:124788400-124788600	Enhancers	Pancreatic Islets	Pancreatic Islet

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