Variant report

Variant	rs12494133
Chromosome Location	chr3:160778198-160778199
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160770517..160774419-chr3:160776839..160778758,3	MCF-7	breast:
2	chr3:160778138..160780408-chr3:160781203..160783846,3	MCF-7	breast:
3	chr3:160776732..160778669-chr3:160784922..160787021,2	MCF-7	breast:
4	chr3:160778095..160780488-chr3:160782527..160784697,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1045448	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11922296	1.00[CEU][hapmap]
rs12107243	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12488621	0.90[CEU][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13319969	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs13325518	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1348976	1.00[CEU][hapmap]
rs1374789	1.00[CEU][hapmap]
rs1374790	1.00[CEU][hapmap]
rs1447615	1.00[CEU][hapmap]
rs1599380	0.80[EUR][1000 genomes]
rs1599384	0.81[EUR][1000 genomes]
rs16831868	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1839018	1.00[CEU][hapmap]
rs1947686	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs2231252	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs2279106	0.95[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28623696	0.89[EUR][1000 genomes]
rs35440670	0.80[EUR][1000 genomes]
rs35599916	0.80[EUR][1000 genomes]
rs4339146	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4443220	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs4465984	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs6441352	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6441353	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs6763838	0.90[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6795977	0.95[CEU][hapmap]
rs6801330	1.00[CEU][hapmap]
rs68159406	0.80[EUR][1000 genomes]
rs721657	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7429731	0.90[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7630896	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7634115	0.80[EUR][1000 genomes]
rs7649954	0.90[CEU][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs898683	0.90[CEU][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs898684	0.90[CEU][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs898685	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9824308	0.90[CEU][hapmap]
rs9829882	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9830139	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9834751	0.80[EUR][1000 genomes]
rs9840389	0.81[EUR][1000 genomes]
rs9861850	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs9864145	0.94[AMR][1000 genomes];0.92[EUR][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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv967245	chr3:160772823-160779146	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160745200-160782600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:160768000-160786400	Weak transcription	Left Ventricle	heart
3	chr3:160771000-160783200	Weak transcription	Fetal Brain Female	brain
4	chr3:160772000-160784200	Weak transcription	Primary B cells from cord blood	blood
5	chr3:160773200-160786800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:160773600-160785600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:160773800-160787200	Weak transcription	Gastric	stomach
8	chr3:160775800-160782600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:160776000-160787200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:160777200-160787800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:160777600-160778200	Enhancers	Esophagus	oesophagus
12	chr3:160778000-160778200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:160778000-160778200	Enhancers	Skeletal Muscle Male	skeletal muscle

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