Variant report

Variant	rs1808399
Chromosome Location	chr5:52462826-52462827
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1445989	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445990	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251587	0.83[AMR][1000 genomes]
rs254473	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs254487	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs254488	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591904	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs30637	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964937	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964938	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52458200-52463600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:52458200-52463600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:52458200-52463600	Weak transcription	Osteobl	bone
4	chr5:52460000-52465200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:52460200-52464400	Enhancers	NHDF-Ad	bronchial
6	chr5:52460400-52464200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:52460400-52465200	Enhancers	Adipose Nuclei	Adipose
8	chr5:52460800-52463400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:52460800-52463800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:52461400-52464600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:52461800-52463000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:52461800-52465000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:52462000-52464200	Enhancers	NHLF	lung
14	chr5:52462200-52463600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:52462200-52464400	Enhancers	Liver	Liver
16	chr5:52462400-52464800	Enhancers	Colon Smooth Muscle	Colon
17	chr5:52462600-52463400	Weak transcription	Right Atrium	heart
18	chr5:52462600-52463600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:52462600-52463600	Weak transcription	Fetal Lung	lung
20	chr5:52462800-52463200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:52462800-52463200	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:52462800-52463200	Weak transcription	Fetal Stomach	stomach

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