Variant report

Variant	rs2951457
Chromosome Location	chr3:112848811-112848812
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	chr3:112841500..112843194-chr3:112847365..112849166,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11916824	1.00[EUR][1000 genomes]
rs13315100	1.00[EUR][1000 genomes]
rs13316462	1.00[EUR][1000 genomes]
rs1381062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2045689	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613927	0.81[AFR][1000 genomes]
rs2613930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613953	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613969	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650095	1.00[EUR][1000 genomes]
rs2700195	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700197	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2926810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3101348	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57228683	1.00[EUR][1000 genomes]
rs57766030	1.00[EUR][1000 genomes]
rs57995695	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58100446	1.00[EUR][1000 genomes]
rs58310808	1.00[EUR][1000 genomes]
rs59069330	1.00[EUR][1000 genomes]
rs59171219	1.00[EUR][1000 genomes]
rs59534035	1.00[EUR][1000 genomes]
rs59923952	1.00[EUR][1000 genomes]
rs6787825	1.00[EUR][1000 genomes]
rs6798990	1.00[EUR][1000 genomes]
rs712528	1.00[EUR][1000 genomes]
rs7623507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs799828	1.00[EUR][1000 genomes]
rs9826018	1.00[EUR][1000 genomes]
rs9864636	1.00[EUR][1000 genomes]
rs9873004	1.00[EUR][1000 genomes]

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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv877345	chr3:112826253-112848851	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112843400-112851200	Weak transcription	NHEK	skin
2	chr3:112846800-112849400	Enhancers	Fetal Stomach	stomach
3	chr3:112847600-112851600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:112847600-112851600	Weak transcription	HSMM	muscle
5	chr3:112847600-112851800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:112847600-112851800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:112847800-112851400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:112847800-112851800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:112848000-112851400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:112848000-112852000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:112848400-112851400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:112848400-112851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:112848600-112851400	Weak transcription	NHDF-Ad	bronchial
15	chr3:112848800-112849200	Enhancers	Colon Smooth Muscle	Colon

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