Variant report

Variant	rs12275938
Chromosome Location	chr11:120698604-120698605
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	chr11:120686696..120688253-chr11:120698044..120700322,2	MCF-7	breast:
2	chr11:120679289..120681891-chr11:120696979..120699784,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11218009	1.00[EUR][1000 genomes]
rs11218020	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11218033	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11501142	1.00[EUR][1000 genomes]
rs11822985	1.00[EUR][1000 genomes]
rs12270392	1.00[EUR][1000 genomes]
rs12278293	1.00[EUR][1000 genomes]
rs12278548	0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279279	1.00[EUR][1000 genomes]
rs12279371	1.00[EUR][1000 genomes]
rs12285831	1.00[EUR][1000 genomes]
rs12286020	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289919	1.00[EUR][1000 genomes]
rs12290599	1.00[EUR][1000 genomes]
rs12291509	1.00[EUR][1000 genomes]
rs12291645	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294917	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295088	0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124355	1.00[EUR][1000 genomes]
rs57090447	1.00[EUR][1000 genomes]
rs57940959	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58190380	1.00[EUR][1000 genomes]
rs61512619	1.00[EUR][1000 genomes]
rs7114795	1.00[EUR][1000 genomes]
rs73578576	1.00[EUR][1000 genomes]
rs73578585	1.00[EUR][1000 genomes]
rs73580678	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938287	1.00[EUR][1000 genomes]
rs7948126	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120684000-120707600	Weak transcription	Ovary	ovary
2	chr11:120688200-120699800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:120691400-120699000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:120691600-120698800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:120694600-120703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:120697600-120698800	Weak transcription	Fetal Lung	lung
7	chr11:120698400-120701400	Enhancers	Brain Substantia Nigra	brain
8	chr11:120698400-120701800	Enhancers	Brain Hippocampus Middle	brain
9	chr11:120698600-120699000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr11:120698600-120699800	Enhancers	Brain Angular Gyrus	brain
11	chr11:120698600-120701400	Enhancers	Brain Cingulate Gyrus	brain

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