Variant report

Variant	rs7137500
Chromosome Location	chr12:46004676-46004677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2712590	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2712592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2712594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2712596	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2712597	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2712598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2712599	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2712601	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2712602	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7294982	0.90[AMR][1000 genomes];0.95[EUR][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	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46004200-46006000	Weak transcription	NHDF-Ad	bronchial
2	chr12:46004400-46004800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:46004400-46005400	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:46004600-46004800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:46004600-46004800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:46004600-46005000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:46004600-46005000	Weak transcription	Right Atrium	heart

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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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