Variant report

Variant	rs11168293
Chromosome Location	chr12:48293716-48293717
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11168292	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890733	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3890734	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760658	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59128934	0.83[ASN][1000 genomes]
rs7299460	0.91[YRI][hapmap]

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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168293	PRKAG1	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
4	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
5	chr12:48287800-48294200	Weak transcription	NHDF-Ad	bronchial
6	chr12:48288400-48294200	Weak transcription	Fetal Thymus	thymus
7	chr12:48288400-48294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:48289800-48293800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:48290800-48293800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:48290800-48294000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:48290800-48294400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48290800-48294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:48290800-48294400	Weak transcription	HSMM	muscle
14	chr12:48290800-48296400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:48291000-48294000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:48291000-48297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:48291400-48293800	Weak transcription	Liver	Liver
19	chr12:48291400-48294000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:48291400-48294000	Weak transcription	Placenta	Placenta
21	chr12:48291400-48294200	Weak transcription	Hela-S3	cervix
22	chr12:48291400-48294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:48291400-48294400	Weak transcription	Pancreas	Pancrea
24	chr12:48291400-48297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:48291600-48293800	Strong transcription	HSMMtube	muscle
26	chr12:48292400-48294200	Weak transcription	Osteobl	bone
27	chr12:48292800-48293800	Enhancers	Small Intestine	intestine
28	chr12:48293000-48294000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:48293000-48296800	Enhancers	Fetal Intestine Large	intestine
30	chr12:48293000-48297200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:48293200-48294200	Genic enhancers	HMEC	breast
32	chr12:48293200-48294800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:48293200-48295800	Enhancers	Primary T cells from cord blood	blood
34	chr12:48293200-48297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:48293200-48297400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:48293200-48297400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:48293200-48297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:48293200-48297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:48293400-48293800	Flanking Active TSS	Colonic Mucosa	Colon
40	chr12:48293400-48293800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:48293400-48294200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:48293400-48294400	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:48293400-48294600	Genic enhancers	NHEK	skin
44	chr12:48293400-48294600	Strong transcription	NHLF	lung
45	chr12:48293400-48294800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:48293400-48295200	Genic enhancers	Fetal Intestine Small	intestine
47	chr12:48293400-48296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:48293400-48296400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:48293400-48297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:48293400-48297400	Enhancers	Esophagus	oesophagus

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