Variant report

Variant	rs13424594
Chromosome Location	chr2:151917161-151917162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10178102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10202421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469704	1.00[AMR][1000 genomes]
rs13383738	1.00[AMR][1000 genomes]
rs13401734	1.00[AMR][1000 genomes]
rs13412724	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431998	1.00[AMR][1000 genomes]
rs57977434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59237589	1.00[AMR][1000 genomes]
rs7564559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7577551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:151910400-151919400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:151910600-151919400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:151913000-151919400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:151914200-151917200	Weak transcription	NHEK	skin
5	chr2:151914200-151917400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:151914400-151919600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:151914400-151919600	Weak transcription	NHDF-Ad	bronchial
8	chr2:151916000-151918000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:151916600-151918400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:151917000-151917400	Enhancers	HMEC	breast
11	chr2:151917000-151918000	Enhancers	Osteobl	bone

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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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