Variant report

Variant	rs12469080
Chromosome Location	chr2:30393859-30393860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30391758..30394636-chr2:30396295..30399103,2	K562	blood:
2	chr2:30390741..30392529-chr2:30392950..30394868,2	K562	blood:
3	chr2:30384538..30386096-chr2:30392392..30395121,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1137288	0.85[JPT][hapmap]
rs11886753	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11898846	0.83[ASN][1000 genomes]
rs12463847	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13397907	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13403749	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17009192	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2084335	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3087895	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754535	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4951983	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4952095	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4952096	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4952098	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4952102	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4952105	1.00[ASW][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs55735005	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59074474	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7567202	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7600457	0.85[JPT][hapmap]
rs7603324	0.85[JPT][hapmap]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30382400-30395600	Weak transcription	Aorta	Aorta
3	chr2:30382400-30400400	Weak transcription	Left Ventricle	heart
4	chr2:30382400-30400600	Weak transcription	Lung	lung
5	chr2:30382400-30400600	Weak transcription	Spleen	Spleen
6	chr2:30383400-30395200	Weak transcription	Fetal Heart	heart
7	chr2:30383600-30400800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:30388400-30395400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:30388400-30401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:30388800-30401400	Weak transcription	HSMMtube	muscle
11	chr2:30388800-30407200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:30390800-30399200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:30392000-30395000	Weak transcription	Adipose Nuclei	Adipose

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