Variant report

Variant	rs12295638
Chromosome Location	chr11:26605331-26605332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10501059	0.95[JPT][hapmap]
rs10835008	0.93[TSI][hapmap]
rs10835046	0.89[JPT][hapmap]
rs10835047	0.90[JPT][hapmap]
rs11029649	0.89[JPT][hapmap]
rs11601992	0.90[JPT][hapmap]
rs11602453	0.89[JPT][hapmap]
rs11606202	0.90[JPT][hapmap]
rs11606235	0.90[JPT][hapmap]
rs11606418	0.95[JPT][hapmap]
rs12278931	0.90[JPT][hapmap]
rs12279760	0.90[JPT][hapmap]
rs12292104	0.89[JPT][hapmap]
rs12294962	0.93[TSI][hapmap]
rs12295913	0.92[TSI][hapmap]
rs12418283	0.93[TSI][hapmap]
rs12574098	0.86[JPT][hapmap]
rs12577224	0.85[JPT][hapmap]
rs12577354	0.90[JPT][hapmap]
rs1353142	0.86[TSI][hapmap]
rs3802754	0.90[JPT][hapmap]
rs4382858	0.85[JPT][hapmap]
rs4418758	0.85[JPT][hapmap]
rs4418759	0.84[JPT][hapmap]
rs7101361	0.85[JPT][hapmap]
rs7101811	0.90[JPT][hapmap]
rs7102014	0.85[JPT][hapmap]
rs7102068	0.85[JPT][hapmap]
rs7114378	0.84[JPT][hapmap]
rs7117596	0.90[JPT][hapmap]
rs7128122	0.85[JPT][hapmap]
rs7128239	0.85[JPT][hapmap]
rs7128384	0.85[JPT][hapmap]
rs7128823	0.85[JPT][hapmap]
rs7932456	0.90[JPT][hapmap]
rs7932573	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521916	chr11:26485520-26605331	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1044544	chr11:26506962-26967285	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1050121	chr11:26532655-26675303	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv540974	chr11:26532655-26675303	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity (extreme)	19553259	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12295638	GNAI2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26600400-26643000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:26603800-26623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:26604000-26623600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:26604600-26605600	Enhancers	HMEC	breast
5	chr11:26604800-26605400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:26604800-26606600	Enhancers	NHEK	skin
7	chr11:26605000-26605400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:26605000-26605400	Enhancers	Colon Smooth Muscle	Colon
9	chr11:26605000-26605600	Enhancers	Fetal Heart	heart
10	chr11:26605200-26605400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:26605200-26606200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:26605200-26608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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