Variant report

Variant	rs11179617
Chromosome Location	chr12:41446008-41446009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10879518	0.80[ASN][1000 genomes]
rs10879519	0.82[ASN][1000 genomes]
rs10879631	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11179346	0.80[ASN][1000 genomes]
rs11179364	0.80[ASN][1000 genomes]
rs11179369	0.80[ASN][1000 genomes]
rs11179419	0.80[ASN][1000 genomes]
rs11179582	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11179592	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11179638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179687	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11179828	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12367206	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12367345	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12579817	0.80[ASN][1000 genomes]
rs12580345	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12580874	0.80[ASN][1000 genomes]
rs12581237	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17624585	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2044090	0.80[ASN][1000 genomes]
rs7305929	0.80[ASN][1000 genomes]
rs7309797	0.80[ASN][1000 genomes]
rs73116993	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73116997	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73121249	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73126948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954108	0.82[ASN][1000 genomes]
rs7968141	0.82[ASN][1000 genomes]
rs7971217	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41408200-41449800	Weak transcription	Brain Anterior Caudate	brain
2	chr12:41429000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41439800-41449600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:41445800-41446200	Enhancers	A549	lung
5	chr12:41445800-41446400	Enhancers	Fetal Lung	lung
6	chr12:41446000-41446200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr12:41446000-41447800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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