Variant report

Variant	rs704192
Chromosome Location	chr12:22015114-22015115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10841900	0.89[EUR][1000 genomes]
rs10841902	0.85[ASN][1000 genomes]
rs11046212	0.88[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs11046213	0.87[EUR][1000 genomes]
rs11046215	0.81[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs1388698	0.93[CHB][hapmap]
rs1492137	0.85[ASN][1000 genomes]
rs1643235	0.82[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1914361	0.94[CHB][hapmap]
rs1965033	0.85[ASN][1000 genomes]
rs1972613	0.88[EUR][1000 genomes]
rs2032775	0.94[CHB][hapmap]
rs2112080	0.82[JPT][hapmap]
rs2161063	0.82[CEU][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs2292771	0.94[CHB][hapmap]
rs2307024	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs3782667	0.82[JPT][hapmap]
rs3782668	0.85[ASN][1000 genomes]
rs4148666	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs4148669	0.85[ASN][1000 genomes]
rs4148673	0.82[CEU][hapmap];0.83[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs4148674	0.85[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs4296081	0.88[EUR][1000 genomes]
rs4762717	0.94[CHB][hapmap]
rs704175	0.82[JPT][hapmap]
rs704185	0.81[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs704187	0.81[CEU][hapmap];0.82[JPT][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs704189	0.81[CEU][hapmap];0.82[JPT][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs704190	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs704191	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314764	0.94[CHB][hapmap]
rs7978092	0.94[CHB][hapmap]
rs861202	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1847099	chr12:22003544-22035425	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs704192	ABCC9	cis	parietal	SCAN
rs704192	SLCO1A2	cis	parietal	SCAN
rs704192	ABCC9	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:21995600-22022200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:21995800-22022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:21997600-22016600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:21999200-22015400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:22003400-22015800	Weak transcription	Right Ventricle	heart
8	chr12:22003400-22026600	Weak transcription	Psoas Muscle	Psoas
9	chr12:22003600-22022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:22007800-22022200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:22008600-22017800	Strong transcription	Liver	Liver
12	chr12:22009800-22015200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:22012200-22026400	Weak transcription	Fetal Heart	heart
14	chr12:22012400-22015200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:22014200-22015800	Strong transcription	Left Ventricle	heart
16	chr12:22014200-22020800	Weak transcription	Fetal Lung	lung
17	chr12:22014600-22015800	Strong transcription	Adipose Nuclei	Adipose
18	chr12:22014800-22034800	Weak transcription	Ovary	ovary

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