Variant report

Variant	rs41390044
Chromosome Location	chr3:46241209-46241210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17078681	0.83[AFR][1000 genomes]
rs17078691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17078693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35111399	0.94[AFR][1000 genomes]
rs41360244	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41364446	0.82[AFR][1000 genomes]
rs41416345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41446946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4547740	0.83[AFR][1000 genomes]
rs56102061	0.83[AFR][1000 genomes]
rs57522944	0.83[AFR][1000 genomes]
rs58095302	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59654809	0.84[AFR][1000 genomes]
rs61145486	0.80[AFR][1000 genomes]
rs6791732	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6792180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830779	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830795	0.98[AFR][1000 genomes];1.00[AMR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr3:46235200-46241800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46235400-46247600	Weak transcription	Placenta	Placenta
3	chr3:46235400-46249600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:46237000-46241600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:46239600-46243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:46239800-46249400	Weak transcription	Primary T cells from cord blood	blood
7	chr3:46240400-46242800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:46241000-46244600	Weak transcription	Spleen	Spleen
9	chr3:46241200-46242200	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:46241200-46242600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:46241200-46246600	Genic enhancers	Primary monocytes fromperipheralblood	blood

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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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