Variant report

Variant	rs4518451
Chromosome Location	chr5:111559727-111559728
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10065740	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10068493	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10477478	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10478073	0.83[AMR][1000 genomes]
rs1078128	0.83[AMR][1000 genomes]
rs11241153	0.84[AMR][1000 genomes]
rs12186685	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12188700	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12189034	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1427978	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1966565	0.87[AMR][1000 genomes]
rs2416277	0.83[AMR][1000 genomes]
rs4957634	0.81[AMR][1000 genomes]
rs4957636	0.81[AMR][1000 genomes]
rs4958009	0.81[AMR][1000 genomes]
rs4958012	0.83[AMR][1000 genomes]
rs4958013	0.83[AMR][1000 genomes]
rs4958014	0.83[AMR][1000 genomes]
rs4958015	0.86[AMR][1000 genomes]
rs55913426	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59537089	0.83[AMR][1000 genomes]
rs6876893	0.81[AMR][1000 genomes]
rs6884589	0.83[AMR][1000 genomes]
rs7704087	0.84[AMR][1000 genomes]
rs7709484	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7719346	0.83[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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111586400	Weak transcription	Gastric	stomach
2	chr5:111538600-111563600	Weak transcription	Lung	lung
3	chr5:111546600-111561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:111554000-111562800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:111554200-111563600	Weak transcription	Left Ventricle	heart
6	chr5:111554200-111563600	Weak transcription	Right Ventricle	heart
7	chr5:111554200-111568400	Weak transcription	Right Atrium	heart
8	chr5:111557000-111561200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:111557000-111563600	Weak transcription	Stomach Mucosa	stomach
10	chr5:111558200-111561600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:111558600-111560200	Weak transcription	Fetal Heart	heart
12	chr5:111558600-111563200	Weak transcription	Pancreas	Pancrea
13	chr5:111558600-111563400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:111558600-111584400	Weak transcription	Psoas Muscle	Psoas
15	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:111559000-111562200	Weak transcription	A549	lung
17	chr5:111559400-111564200	Weak transcription	Liver	Liver

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