Variant report

Variant	rs6449468
Chromosome Location	chr5:59628265-59628266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10461451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653863	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166747	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168480	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13171028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038162	0.86[AFR][1000 genomes]
rs34353877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762247	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35811820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35914313	0.88[AFR][1000 genomes]
rs36050835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4349679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4394088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699954	0.85[AFR][1000 genomes]
rs56341652	0.88[AFR][1000 genomes]
rs57237852	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449466	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449467	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67522885	0.89[EUR][1000 genomes]
rs6860626	0.81[AFR][1000 genomes]
rs6861084	0.88[AFR][1000 genomes]
rs6862735	0.88[AFR][1000 genomes]
rs6897671	0.97[ASN][1000 genomes]
rs71630006	0.88[AFR][1000 genomes]
rs7733705	0.88[AFR][1000 genomes]
rs7735149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr5:59620400-59629400	Weak transcription	Aorta	Aorta
2	chr5:59620400-59631000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:59625200-59646800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:59626200-59630000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:59626600-59635800	Weak transcription	Fetal Stomach	stomach
6	chr5:59626800-59629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:59627200-59630400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:59627400-59630000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:59627800-59630200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:59628000-59628800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:59628000-59631000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:59628000-59631000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:59628000-59631000	Enhancers	HMEC	breast
14	chr5:59628000-59631000	Enhancers	NHDF-Ad	bronchial
15	chr5:59628200-59630600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:59628200-59630600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:59628200-59630600	Enhancers	NHEK	skin
18	chr5:59628200-59631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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