Variant report

Variant	rs12515064
Chromosome Location	chr5:118028928-118028929
allele	A/C
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]
rs10056759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070759	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10071297	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11739738	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11740424	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12513958	0.89[ASN][1000 genomes]
rs12520595	0.84[ASN][1000 genomes]
rs13184812	0.86[ASN][1000 genomes]
rs1429710	0.85[ASN][1000 genomes]
rs1429711	0.86[ASN][1000 genomes]
rs1429719	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1594243	0.86[ASN][1000 genomes]
rs1864329	0.86[ASN][1000 genomes]
rs2376682	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2376685	0.84[ASN][1000 genomes]
rs2972224	0.85[ASN][1000 genomes]
rs35097285	0.88[ASN][1000 genomes]
rs36060260	0.85[ASN][1000 genomes]
rs4362970	0.84[ASN][1000 genomes]
rs4591779	0.84[ASN][1000 genomes]
rs62370469	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6595159	0.87[ASN][1000 genomes]
rs6874450	0.90[ASN][1000 genomes]
rs6875045	0.88[ASN][1000 genomes]
rs6883043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891349	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6892090	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6894241	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6896169	0.88[ASN][1000 genomes]
rs7705673	0.85[ASN][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	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv599541	chr5:117869174-118049776	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1027667	chr5:117891559-118036578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv882766	chr5:117893138-118032245	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118027800-118029200	Enhancers	Fetal Muscle Leg	muscle
2	chr5:118028200-118029000	Enhancers	Fetal Heart	heart
3	chr5:118028200-118029000	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:118028400-118029000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:118028400-118029000	Enhancers	Fetal Brain Female	brain
6	chr5:118028400-118029200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:118028400-118029200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:118028400-118029200	Enhancers	Left Ventricle	heart
9	chr5:118028600-118029000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:118028800-118029000	Enhancers	Gastric	stomach
11	chr5:118028800-118029200	Enhancers	HUES6 Cell Line	embryonic stem cell

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