Variant report

Variant	rs28673990
Chromosome Location	chr14:79517909-79517910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10129622	1.00[AMR][1000 genomes]
rs10129767	1.00[AMR][1000 genomes]
rs10130794	0.89[AFR][1000 genomes]
rs10131285	0.89[AFR][1000 genomes]
rs10132523	1.00[AMR][1000 genomes]
rs10134044	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134881	1.00[AMR][1000 genomes]
rs10136667	1.00[AMR][1000 genomes]
rs10137034	0.89[AFR][1000 genomes]
rs10140005	0.93[AFR][1000 genomes]
rs10141967	0.86[AFR][1000 genomes]
rs10143938	1.00[AMR][1000 genomes]
rs10144702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150043	1.00[AMR][1000 genomes]
rs10150236	1.00[AMR][1000 genomes]
rs10150326	1.00[AMR][1000 genomes]
rs10150906	0.90[AFR][1000 genomes]
rs10151063	1.00[AMR][1000 genomes]
rs10438175	1.00[AMR][1000 genomes]
rs13379131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379188	0.83[AFR][1000 genomes]
rs13379304	0.80[AFR][1000 genomes]
rs2062743	0.81[AFR][1000 genomes]
rs28376793	0.87[AFR][1000 genomes]
rs28547245	0.83[AFR][1000 genomes]
rs28667554	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4609770	0.87[AFR][1000 genomes]
rs60089514	1.00[AMR][1000 genomes]
rs60147420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60958288	0.87[AFR][1000 genomes]
rs7141297	1.00[AMR][1000 genomes]
rs73316615	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317278	1.00[AMR][1000 genomes]
rs73317280	1.00[AMR][1000 genomes]
rs73318802	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320815	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322876	0.86[AFR][1000 genomes]
rs73322893	0.87[AFR][1000 genomes]
rs73324705	0.84[AFR][1000 genomes]
rs73324730	0.87[AFR][1000 genomes]
rs73324740	0.83[AFR][1000 genomes]
rs73324748	0.87[AFR][1000 genomes]
rs73332955	1.00[AMR][1000 genomes]
rs8014991	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv565247	chr14:79508316-79555651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr14:79515800-79519800	Enhancers	Colon Smooth Muscle	Colon
2	chr14:79516800-79518200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:79516800-79518200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:79517000-79518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:79517000-79518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:79517000-79518000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:79517000-79518200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:79517000-79518200	Enhancers	HMEC	breast
9	chr14:79517200-79518200	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:79517200-79528200	Weak transcription	Brain Germinal Matrix	brain
11	chr14:79517400-79518000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:79517400-79518200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:79517400-79518200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr14:79517400-79518200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:79517400-79518800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:79517600-79518000	Weak transcription	Fetal Stomach	stomach
17	chr14:79517600-79518000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:79517600-79518000	Active TSS	Stomach Smooth Muscle	stomach
19	chr14:79517600-79518200	Enhancers	Brain Hippocampus Middle	brain
20	chr14:79517800-79518200	Active TSS	Aorta	Aorta

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