Variant report

Variant	rs59143079
Chromosome Location	chr12:20688343-20688344
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10841558	0.85[ASN][1000 genomes]
rs10841560	0.83[ASN][1000 genomes]
rs10841561	0.94[ASN][1000 genomes]
rs11045299	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12228896	0.91[ASN][1000 genomes]
rs12423118	0.82[ASN][1000 genomes]
rs12425566	0.85[ASN][1000 genomes]
rs12580359	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12813387	0.82[ASN][1000 genomes]
rs2311	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35574173	0.85[AMR][1000 genomes]
rs4627131	0.86[EUR][1000 genomes]
rs55975172	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57544392	0.81[ASN][1000 genomes]
rs58362327	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6487103	0.80[ASN][1000 genomes]
rs6487104	0.80[ASN][1000 genomes]
rs73075175	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7308219	0.86[ASN][1000 genomes]
rs7487165	0.85[ASN][1000 genomes]
rs7955323	0.81[ASN][1000 genomes]
rs7959560	0.82[ASN][1000 genomes]
rs7965577	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20673800-20694200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:20673800-20704200	Weak transcription	Fetal Intestine Large	intestine
3	chr12:20687600-20688400	Enhancers	A549	lung
4	chr12:20688000-20688400	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:20688000-20688600	Enhancers	Colon Smooth Muscle	Colon
6	chr12:20688000-20688600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr12:20688200-20688600	Enhancers	Aorta	Aorta
8	chr12:20688200-20688600	Genic enhancers	Hela-S3	cervix

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