Variant report

Variant	rs74089149
Chromosome Location	chr12:48555452-48555453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55759881	0.83[AMR][1000 genomes]
rs55789595	0.83[AMR][1000 genomes]
rs55991805	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57539024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148022	0.83[AMR][1000 genomes]
rs58373242	0.83[AMR][1000 genomes]
rs59051221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59643562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59787033	1.00[AMR][1000 genomes]
rs59896935	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60001451	1.00[AMR][1000 genomes]
rs60316794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61558457	1.00[AMR][1000 genomes]
rs61750873	0.83[AMR][1000 genomes]
rs7316275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086781	0.83[AMR][1000 genomes]
rs74086968	0.83[AMR][1000 genomes]
rs74086984	1.00[AMR][1000 genomes]
rs74089112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089120	1.00[AMR][1000 genomes]
rs74089127	1.00[AMR][1000 genomes]
rs74089135	1.00[AMR][1000 genomes]
rs74089151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089160	0.83[AFR][1000 genomes]
rs74089161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089540	0.83[AMR][1000 genomes]
rs74089548	0.83[AMR][1000 genomes]
rs74089549	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48552000-48555800	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:48552000-48556600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:48552000-48557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:48552200-48556600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:48552800-48556000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:48553800-48555600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:48553800-48555600	Enhancers	GM12878-XiMat	blood
8	chr12:48554000-48555600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:48554000-48555600	Enhancers	Fetal Heart	heart
10	chr12:48554000-48555800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:48554600-48556000	Enhancers	K562	blood
12	chr12:48554600-48556600	Enhancers	Psoas Muscle	Psoas
13	chr12:48554600-48557000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:48554800-48555600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:48554800-48558200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:48555000-48556800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:48555000-48558200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:48555400-48555600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:48555400-48555800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:48555400-48556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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