Variant report

Variant	rs16950101
Chromosome Location	chr12:120815504-120815505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
2	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12299143	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12423303	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12424233	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424555	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12425936	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12426900	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12427069	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12427095	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16950044	1.00[CEU][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs16950047	0.82[CEU][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs16950058	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16950061	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16950065	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238158	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238161	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283363	0.93[MKK][hapmap]
rs2464296	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2522140	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2701643	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2905543	0.80[EUR][1000 genomes]
rs3847967	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs3847968	0.82[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs3847969	0.95[EUR][1000 genomes]
rs3898618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237802	0.93[ASN][1000 genomes]
rs5634	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56733641	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57141366	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57279831	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57384430	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58232894	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59447311	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59768240	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60176939	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60731947	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61140476	0.83[EUR][1000 genomes]
rs61592165	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61665022	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61748115	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7960401	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7977875	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9657936	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9657937	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9657941	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9657942	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9657948	0.82[AMR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16950101	SIRT4	cis	lymphoblastoid	seeQTL
rs16950101	SIRT4	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120813200-120815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:120813600-120815600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:120813600-120815600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:120813600-120815600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:120813600-120815600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:120813800-120815600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:120813800-120815800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:120813800-120819200	Weak transcription	Fetal Intestine Small	intestine
9	chr12:120814000-120815800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120814000-120819200	Weak transcription	Hela-S3	cervix
11	chr12:120814400-120815800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:120814600-120819200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:120815000-120815600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:120815400-120818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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