Variant report

Variant	rs57671316
Chromosome Location	chr3:143392072-143392073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10513214	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10935499	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11916000	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16853964	0.87[ASN][1000 genomes]
rs58563012	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58758962	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700545	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73152850	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73152852	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143370800-143420800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143387600-143393000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:143390400-143392400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:143390400-143392400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:143390600-143392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:143390800-143393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:143390800-143393000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:143391200-143393000	Weak transcription	Fetal Lung	lung
9	chr3:143391400-143392200	Enhancers	Brain Germinal Matrix	brain
10	chr3:143391400-143392600	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:143391400-143392800	Enhancers	Primary B cells from cord blood	blood
12	chr3:143391400-143393000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:143391400-143402800	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:143391600-143392400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:143391600-143393600	Enhancers	Fetal Thymus	thymus
16	chr3:143391800-143392200	Enhancers	Brain Anterior Caudate	brain
17	chr3:143391800-143392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:143391800-143392800	Enhancers	GM12878-XiMat	blood
19	chr3:143391800-143393000	Enhancers	Dnd41	blood
20	chr3:143392000-143393200	Weak transcription	Brain Substantia Nigra	brain

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