Variant report

Variant	rs61140476
Chromosome Location	chr12:120720246-120720247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120638716..120640302-chr12:120718871..120721546,2	K562	blood:
2	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
3	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
4	chr12:120638786..120640302-chr12:120719787..120721546,2	K562	blood:

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12299143	0.83[EUR][1000 genomes]
rs12424233	0.83[EUR][1000 genomes]
rs12424555	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12426368	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16950044	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16950047	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16950058	0.83[EUR][1000 genomes]
rs16950061	0.83[EUR][1000 genomes]
rs16950065	0.83[EUR][1000 genomes]
rs16950101	0.83[EUR][1000 genomes]
rs2238161	0.83[EUR][1000 genomes]
rs2464296	0.88[EUR][1000 genomes]
rs2701643	0.81[EUR][1000 genomes]
rs3847967	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3847968	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3847969	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3898618	0.83[EUR][1000 genomes]
rs5634	0.83[EUR][1000 genomes]
rs56733641	0.81[EUR][1000 genomes]
rs57279831	0.83[EUR][1000 genomes]
rs57384430	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59768240	0.83[EUR][1000 genomes]
rs60176939	0.81[EUR][1000 genomes]
rs61665022	0.88[EUR][1000 genomes]
rs61748115	0.85[EUR][1000 genomes]
rs7960401	0.83[EUR][1000 genomes]
rs9657936	0.83[EUR][1000 genomes]
rs9657941	0.83[EUR][1000 genomes]
rs9657942	0.83[EUR][1000 genomes]
rs9657948	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61140476	SIRT4	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120704000-120721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:120716800-120721200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:120716800-120721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:120716800-120728600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:120717400-120724600	Weak transcription	A549	lung
6	chr12:120717400-120728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:120718400-120722400	Enhancers	Placenta	Placenta
8	chr12:120719800-120720400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:120719800-120720400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:120720000-120720400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:120720000-120720400	Enhancers	Lung	lung
12	chr12:120720200-120720400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:120720200-120721600	Weak transcription	Placenta Amnion	Placenta Amnion

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