Variant report

Variant	rs73320804
Chromosome Location	chr14:79517381-79517382
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10136690	1.00[EUR][1000 genomes]
rs10140529	1.00[EUR][1000 genomes]
rs10145952	1.00[EUR][1000 genomes]
rs17094087	1.00[EUR][1000 genomes]
rs17108386	1.00[AMR][1000 genomes]
rs17108387	1.00[EUR][1000 genomes]
rs17108455	1.00[EUR][1000 genomes]
rs17108499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17108613	1.00[AMR][1000 genomes]
rs17108638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108649	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1968436	1.00[AMR][1000 genomes]
rs2170047	1.00[EUR][1000 genomes]
rs28619030	1.00[EUR][1000 genomes]
rs56693583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57057681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57338265	1.00[AMR][1000 genomes]
rs59655196	1.00[AMR][1000 genomes]
rs60009119	1.00[AMR][1000 genomes]
rs61291300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61994014	1.00[AMR][1000 genomes]
rs61995262	1.00[AMR][1000 genomes]
rs61995263	1.00[AMR][1000 genomes]
rs7158612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317277	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320808	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320821	1.00[AMR][1000 genomes]
rs73321613	1.00[EUR][1000 genomes]
rs73321687	1.00[EUR][1000 genomes]
rs73322875	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322878	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322879	1.00[AMR][1000 genomes]
rs73322888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323317	1.00[AMR][1000 genomes]
rs73323375	1.00[AMR][1000 genomes]
rs73324721	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324743	1.00[AMR][1000 genomes]
rs73324745	1.00[AMR][1000 genomes]
rs73324756	1.00[AMR][1000 genomes]
rs73324773	1.00[AMR][1000 genomes]
rs73325332	1.00[AMR][1000 genomes]
rs73325334	1.00[EUR][1000 genomes]
rs73325337	1.00[AMR][1000 genomes]
rs73325339	1.00[AMR][1000 genomes]
rs73332953	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8005448	1.00[EUR][1000 genomes]
rs8005492	1.00[EUR][1000 genomes]
rs8011912	1.00[EUR][1000 genomes]
rs8011993	1.00[EUR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79515800-79519800	Enhancers	Colon Smooth Muscle	Colon
2	chr14:79516800-79517400	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr14:79516800-79517600	Enhancers	Fetal Stomach	stomach
4	chr14:79516800-79517600	Enhancers	Rectal Smooth Muscle	rectum
5	chr14:79516800-79517600	Enhancers	Stomach Smooth Muscle	stomach
6	chr14:79516800-79518200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:79516800-79518200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:79517000-79517800	Enhancers	HSMM	muscle
9	chr14:79517000-79518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:79517000-79518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:79517000-79518000	Weak transcription	Brain Angular Gyrus	brain
12	chr14:79517000-79518200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:79517000-79518200	Enhancers	HMEC	breast
14	chr14:79517200-79517600	Enhancers	NHEK	skin
15	chr14:79517200-79518200	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:79517200-79528200	Weak transcription	Brain Germinal Matrix	brain

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