Variant report

Variant	rs57994790
Chromosome Location	chr3:48261866-48261867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11130161	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633518	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1380053	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34146962	0.86[EUR][1000 genomes]
rs34373799	0.86[EUR][1000 genomes]
rs3731532	0.81[AMR][1000 genomes]
rs58582477	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60305502	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73831561	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73831563	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73831566	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48251800-48264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48257400-48263400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:48257600-48264800	Weak transcription	Hela-S3	cervix
4	chr3:48257800-48272400	Weak transcription	Stomach Mucosa	stomach
5	chr3:48258200-48262800	Weak transcription	Left Ventricle	heart
6	chr3:48258200-48263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:48258200-48264000	Weak transcription	Esophagus	oesophagus
8	chr3:48259400-48263600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr3:48259400-48265000	Weak transcription	Pancreas	Pancrea
10	chr3:48259400-48267400	Weak transcription	Right Ventricle	heart
11	chr3:48259600-48262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:48260000-48263200	Weak transcription	Spleen	Spleen
13	chr3:48260000-48274400	Weak transcription	Right Atrium	heart
14	chr3:48260600-48262200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:48260600-48262200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:48261000-48262000	Weak transcription	Primary B cells from cord blood	blood
17	chr3:48261200-48263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:48261600-48262800	Weak transcription	Ovary	ovary
19	chr3:48261600-48265000	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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