Variant report

Variant	rs7562136
Chromosome Location	chr2:235087617-235087618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57320160	0.94[AFR][1000 genomes]
rs57655815	0.89[AFR][1000 genomes]
rs58069988	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6729278	0.87[AFR][1000 genomes]
rs73121207	0.89[AFR][1000 genomes]
rs73126953	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126968	1.00[AFR][1000 genomes];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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235078600-235098000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:235087000-235087800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:235087000-235087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:235087000-235088200	Flanking Active TSS	A549	lung
5	chr2:235087000-235088400	Strong transcription	Dnd41	blood
6	chr2:235087200-235087800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:235087200-235087800	Enhancers	NH-A	brain
8	chr2:235087200-235088000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:235087400-235087800	Enhancers	Brain Substantia Nigra	brain
10	chr2:235087400-235087800	Enhancers	HMEC	breast
11	chr2:235087400-235088000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:235087600-235091600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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