Variant report

Variant	rs45471291
Chromosome Location	chr14:104516087-104516088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131031	1.00[EUR][1000 genomes]
rs10131231	1.00[EUR][1000 genomes]
rs17101932	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951587	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2295662	1.00[EUR][1000 genomes]
rs28407129	1.00[EUR][1000 genomes]
rs28432266	0.83[EUR][1000 genomes]
rs28439019	1.00[EUR][1000 genomes]
rs45540638	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4900603	1.00[EUR][1000 genomes]
rs57047619	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57711557	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57827261	0.83[AFR][1000 genomes]
rs58071582	1.00[EUR][1000 genomes]
rs58557120	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59945383	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60080575	0.86[EUR][1000 genomes]
rs60532123	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61451840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576015	0.86[EUR][1000 genomes]
rs7144445	1.00[EUR][1000 genomes]
rs7156752	1.00[EUR][1000 genomes]
rs7157034	0.86[EUR][1000 genomes]
rs7158035	0.86[EUR][1000 genomes]
rs74086762	1.00[EUR][1000 genomes]
rs74089114	0.86[EUR][1000 genomes]
rs8020476	0.86[EUR][1000 genomes]
rs8021647	0.86[EUR][1000 genomes]
rs8022184	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
4	nsv1049690	chr14:104411621-104575838	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv542208	chr14:104411621-104575838	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv526680	chr14:104427043-104568472	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1047990	chr14:104460605-104556463	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv542209	chr14:104497447-104540729	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1050479	chr14:104500427-104805738	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104496400-104520800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr14:104509200-104520600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104510600-104516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:104510800-104521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:104511800-104516200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr14:104514200-104516400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:104514200-104520000	Enhancers	HSMMtube	muscle
8	chr14:104514600-104516600	Enhancers	HSMM	muscle
9	chr14:104514800-104516600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:104515000-104516400	Enhancers	Lung	lung
11	chr14:104515000-104516600	Enhancers	Left Ventricle	heart
12	chr14:104515000-104517200	Enhancers	Right Atrium	heart
13	chr14:104515200-104516200	Enhancers	Fetal Heart	heart
14	chr14:104515600-104516400	Enhancers	Fetal Brain Male	brain
15	chr14:104515600-104517000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:104515600-104517000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:104516000-104516200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr14:104516000-104516200	Flanking Active TSS	Right Ventricle	heart
19	chr14:104516000-104516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:104516000-104516400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:104516000-104516400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:104516000-104516800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr14:104516000-104516800	ZNF genes & repeats	Spleen	Spleen
24	chr14:104516000-104517000	Active TSS	Brain Cingulate Gyrus	brain
25	chr14:104516000-104517400	Active TSS	Brain Anterior Caudate	brain

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