Variant report

Variant	rs8044501
Chromosome Location	chr16:48039294-48039295
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12103023	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13330065	1.00[AMR][1000 genomes]
rs13330477	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337029	0.90[AMR][1000 genomes]
rs28508022	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533708	0.98[AFR][1000 genomes]
rs3887008	1.00[AMR][1000 genomes]
rs3899422	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184685	1.00[AMR][1000 genomes]
rs7185342	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7190168	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7194254	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7196906	1.00[AMR][1000 genomes]
rs7198239	1.00[AMR][1000 genomes]
rs7199647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202404	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016242	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016243	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016244	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016251	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016265	0.92[AFR][1000 genomes]
rs8050751	0.92[AFR][1000 genomes]
rs8053889	1.00[AMR][1000 genomes]
rs8055464	0.83[AFR][1000 genomes]
rs8056932	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9923542	1.00[AMR][1000 genomes]
rs9934257	1.00[AMR][1000 genomes]
rs9935906	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9938295	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939073	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9940106	1.00[AMR][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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1798	chr16:48035871-48080541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48036000-48039800	Enhancers	Brain Germinal Matrix	brain
2	chr16:48037000-48039800	Enhancers	Fetal Brain Male	brain
3	chr16:48038600-48042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:48038600-48047200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:48039200-48045800	Weak transcription	Fetal Brain Female	brain

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