Variant report

Variant	rs11183691
Chromosome Location	chr12:47413202-47413203
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11183712	1.00[AMR][1000 genomes]
rs11183720	1.00[AMR][1000 genomes]
rs12300446	1.00[AMR][1000 genomes]
rs59996463	1.00[AMR][1000 genomes]
rs74082742	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47408600-47414000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:47408800-47414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:47411000-47413400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:47411000-47418200	Enhancers	NHEK	skin
5	chr12:47411200-47417600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:47412000-47413800	Weak transcription	NHDF-Ad	bronchial
7	chr12:47412200-47413800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:47412200-47413800	Enhancers	HSMM	muscle
9	chr12:47412200-47414000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:47412200-47414000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:47412200-47414200	Weak transcription	Osteobl	bone
12	chr12:47412200-47415200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:47412200-47415400	Weak transcription	NH-A	brain
14	chr12:47412200-47416400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:47412200-47416400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:47412200-47416600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:47412400-47415200	Weak transcription	NHLF	lung
18	chr12:47412600-47413800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr12:47412600-47413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:47412600-47413800	Weak transcription	HSMMtube	muscle
21	chr12:47412600-47414000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:47412600-47414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:47412600-47414600	Weak transcription	A549	lung
24	chr12:47412600-47415600	Weak transcription	Hela-S3	cervix
25	chr12:47412800-47413800	Weak transcription	Esophagus	oesophagus
26	chr12:47412800-47415200	Weak transcription	HMEC	breast

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