Variant report

Variant	rs12427069
Chromosome Location	chr12:120819225-120819226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120787462..120789140-chr12:120818339..120820776,2	MCF-7	breast:
2	chr12:120801326..120803208-chr12:120818906..120821369,2	MCF-7	breast:
3	chr12:120807680..120810277-chr12:120817947..120820191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239881	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12299143	0.93[EUR][1000 genomes]
rs12423303	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12424233	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12424555	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12425936	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12426900	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12427095	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16950044	0.86[EUR][1000 genomes]
rs16950047	0.86[EUR][1000 genomes]
rs16950058	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16950061	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16950065	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16950101	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238158	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2238161	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2464296	0.88[EUR][1000 genomes]
rs2522140	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701643	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3847968	0.88[EUR][1000 genomes]
rs3847969	0.88[EUR][1000 genomes]
rs3898618	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56237802	0.88[ASN][1000 genomes]
rs5634	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56733641	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57141366	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57279831	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57384430	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58232894	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59447311	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59768240	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60176939	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60731947	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61592165	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61665022	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61748115	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7960401	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977875	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9657936	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9657937	0.80[ASN][1000 genomes]
rs9657941	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9657942	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9657948	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12427069	SIRT4	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120815600-120819600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:120815600-120825800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:120815800-120819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:120817800-120819400	Enhancers	K562	blood
5	chr12:120817800-120821000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:120819200-120820000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:120819200-120820200	Enhancers	Hela-S3	cervix
8	chr12:120819200-120820600	Enhancers	Fetal Intestine Large	intestine
9	chr12:120819200-120820800	Enhancers	HepG2	liver
10	chr12:120819200-120821000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:120819200-120821000	Enhancers	Fetal Heart	heart
12	chr12:120819200-120821000	Enhancers	Fetal Intestine Small	intestine

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