Variant report

Variant	rs4687740
Chromosome Location	chr3:53812988-53812989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11707420	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1829423	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2278516	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278518	0.86[EUR][1000 genomes]
rs2612027	0.81[EUR][1000 genomes]
rs2680650	0.84[EUR][1000 genomes]
rs3774572	0.85[EUR][1000 genomes]
rs3774579	0.81[EUR][1000 genomes]
rs3774586	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3774589	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3774591	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3821865	0.94[EUR][1000 genomes]
rs7617553	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9881910	0.90[AMR][1000 genomes];0.97[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53789800-53814600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:53802400-53818200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:53806800-53813000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:53807400-53819200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:53807600-53814800	Weak transcription	Right Atrium	heart
6	chr3:53807600-53829800	Weak transcription	Brain Angular Gyrus	brain
7	chr3:53808000-53815800	Strong transcription	Fetal Lung	lung
8	chr3:53808200-53814800	Weak transcription	Brain Anterior Caudate	brain
9	chr3:53808200-53817600	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:53808200-53818400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:53808200-53827800	Strong transcription	Fetal Intestine Small	intestine
12	chr3:53808400-53814800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:53808800-53830200	Weak transcription	Pancreas	Pancrea
14	chr3:53809400-53824400	Strong transcription	Fetal Intestine Large	intestine
15	chr3:53811400-53814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:53811400-53838600	Weak transcription	Spleen	Spleen
17	chr3:53811600-53814000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:53811600-53817600	Weak transcription	Fetal Stomach	stomach
19	chr3:53811600-53843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:53811800-53814000	Weak transcription	NHDF-Ad	bronchial
21	chr3:53811800-53814200	Weak transcription	Lung	lung
22	chr3:53812600-53813400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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