Variant report

Variant	rs456510
Chromosome Location	chr14:38092415-38092416
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1022804	0.83[ASN][1000 genomes]
rs10483492	0.83[ASN][1000 genomes]
rs12147245	0.92[ASN][1000 genomes]
rs12147542	0.83[ASN][1000 genomes]
rs17179288	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17179330	0.83[ASN][1000 genomes]
rs17768466	0.83[ASN][1000 genomes]
rs17768503	0.83[ASN][1000 genomes]
rs177831	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs177836	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs177845	0.94[ASN][1000 genomes]
rs177846	0.94[ASN][1000 genomes]
rs177852	0.91[ASN][1000 genomes]
rs177857	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs177858	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs177859	0.91[ASN][1000 genomes]
rs177861	0.91[ASN][1000 genomes]
rs177862	0.91[ASN][1000 genomes]
rs177863	0.91[ASN][1000 genomes]
rs177865	0.87[ASN][1000 genomes]
rs177867	0.87[ASN][1000 genomes]
rs177872	0.83[ASN][1000 genomes]
rs177875	0.83[ASN][1000 genomes]
rs177877	0.81[ASN][1000 genomes]
rs177882	0.83[ASN][1000 genomes]
rs177885	0.83[ASN][1000 genomes]
rs1998359	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28802081	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs457621	0.94[ASN][1000 genomes]
rs55822659	0.81[ASN][1000 genomes]
rs61977073	0.83[ASN][1000 genomes]
rs61977074	0.83[ASN][1000 genomes]
rs61987973	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61987974	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61987975	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61987976	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61987980	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61987999	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61988001	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61988002	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61988004	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61988005	0.87[ASN][1000 genomes]
rs7151000	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151179	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9671863	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv1054995	chr14:38078027-38138176	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38085800-38092600	Weak transcription	Liver	Liver
2	chr14:38091200-38093000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:38091600-38093800	Strong transcription	HepG2	liver
4	chr14:38091800-38092800	Weak transcription	Fetal Intestine Small	intestine
5	chr14:38092000-38093400	Enhancers	NH-A	brain
6	chr14:38092200-38092800	Bivalent Enhancer	HUVEC	blood vessel
7	chr14:38092200-38092800	Weak transcription	NHDF-Ad	bronchial
8	chr14:38092200-38092800	Enhancers	NHEK	skin
9	chr14:38092200-38093000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:38092200-38093400	Weak transcription	Esophagus	oesophagus
11	chr14:38092200-38093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:38092200-38094000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:38092200-38094000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:38092200-38094000	Weak transcription	Lung	lung
15	chr14:38092200-38094000	Enhancers	HMEC	breast
16	chr14:38092200-38109600	Weak transcription	Gastric	stomach
17	chr14:38092400-38093400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:38092400-38094200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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