Variant report

Variant	rs73332953
Chromosome Location	chr14:79483281-79483282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17108386	1.00[AMR][1000 genomes]
rs17108499	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108613	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1968436	1.00[AMR][1000 genomes]
rs56693583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57057681	1.00[AMR][1000 genomes]
rs57338265	1.00[AMR][1000 genomes]
rs59655196	1.00[AMR][1000 genomes]
rs60009119	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61291300	0.86[AFR][1000 genomes];1.00[AMR][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]
rs73317254	1.00[AMR][1000 genomes]
rs73317257	1.00[AMR][1000 genomes]
rs73317263	1.00[AMR][1000 genomes]
rs73317277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320805	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320821	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322879	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323317	1.00[AMR][1000 genomes]
rs73323375	1.00[AMR][1000 genomes]
rs73324721	1.00[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]
rs73325337	1.00[AMR][1000 genomes]
rs73325339	1.00[AMR][1000 genomes]
rs73332961	0.86[AFR][1000 genomes];1.00[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	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	nsv1046464	chr14:79478352-79514789	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79477600-79483600	Weak transcription	NHDF-Ad	bronchial
2	chr14:79478200-79485400	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:79478400-79485200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:79482200-79484000	Enhancers	A549	lung
5	chr14:79482200-79484200	Enhancers	HSMMtube	muscle
6	chr14:79482400-79483800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:79482400-79485800	Enhancers	Osteobl	bone
8	chr14:79482600-79486200	Enhancers	HSMM	muscle
9	chr14:79482600-79486200	Enhancers	NHLF	lung
10	chr14:79482800-79483800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:79482800-79484000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:79482800-79484000	Enhancers	HMEC	breast
13	chr14:79482800-79486000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:79482800-79486200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:79483000-79483600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:79483000-79483600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:79483000-79483800	Enhancers	Fetal Muscle Leg	muscle
18	chr14:79483000-79483800	Enhancers	NHEK	skin
19	chr14:79483000-79484200	Enhancers	NH-A	brain
20	chr14:79483200-79483400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:79483200-79483600	Enhancers	Fetal Stomach	stomach
22	chr14:79483200-79483800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:79483200-79483800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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