Variant report

Variant	rs10469927
Chromosome Location	chr2:55658104-55658105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10169760	1.00[AMR][1000 genomes]
rs10175125	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393046	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394244	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407643	1.00[AMR][1000 genomes]
rs13407739	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415672	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13424427	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9309265	1.00[YRI][hapmap];1.00[AMR][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
2	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:55655200-55659400	Enhancers	Hela-S3	cervix
4	chr2:55655800-55659000	Weak transcription	A549	lung
5	chr2:55657000-55659200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:55657400-55658200	Enhancers	Colon Smooth Muscle	Colon
7	chr2:55657400-55658200	Enhancers	Fetal Kidney	kidney
8	chr2:55657400-55658200	Enhancers	HUVEC	blood vessel
9	chr2:55657400-55659000	Enhancers	Osteobl	bone
10	chr2:55657600-55658400	Enhancers	HepG2	liver
11	chr2:55657800-55658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:55657800-55659000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:55657800-55659200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:55657800-55659200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55658000-55659200	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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