Variant report

Variant	rs59404283
Chromosome Location	chr12:44573940-44573941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11182443	1.00[EUR][1000 genomes]
rs11830768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833168	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094187	1.00[AMR][1000 genomes]
rs17094194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094277	1.00[AMR][1000 genomes]
rs17094314	1.00[AMR][1000 genomes]
rs17094348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851099	1.00[ASN][1000 genomes]
rs2062953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973281	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60400993	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60985254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582497	0.82[ASN][1000 genomes]
rs7132031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295281	1.00[EUR][1000 genomes]
rs73272204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272217	1.00[EUR][1000 genomes]
rs73272267	1.00[EUR][1000 genomes]
rs73272295	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274135	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288040	0.83[AMR][1000 genomes]
rs73288071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290254	1.00[ASN][1000 genomes]
rs73290256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954128	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7961536	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977539	1.00[EUR][1000 genomes]
rs7977654	1.00[AMR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 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	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44568000-44575200	Weak transcription	Left Ventricle	heart
3	chr12:44571800-44579200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:44572400-44574800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:44572600-44574800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:44573000-44574000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:44573000-44574000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44573000-44574200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr12:44573200-44574000	Strong transcription	Fetal Intestine Small	intestine
10	chr12:44573200-44574000	ZNF genes & repeats	Pancreas	Pancrea
11	chr12:44573600-44574200	Weak transcription	Duodenum Mucosa	Duodenum

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