Variant report

Variant	rs4985548
Chromosome Location	chr16:70666948-70666949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11865702	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12051132	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12596022	0.89[ASN][1000 genomes]
rs12596821	0.88[ASN][1000 genomes]
rs12596851	0.89[ASN][1000 genomes]
rs12596861	0.86[ASN][1000 genomes]
rs12596931	0.92[ASN][1000 genomes]
rs12599245	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12708905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917749	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12924106	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928124	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13330163	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864754	0.89[EUR][1000 genomes]
rs34538878	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878593	0.85[ASN][1000 genomes]
rs3813904	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985412	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985539	0.90[ASN][1000 genomes]
rs4985540	0.91[ASN][1000 genomes]
rs4985544	0.82[ASN][1000 genomes]
rs4985555	0.85[ASN][1000 genomes]
rs6499328	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499329	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499330	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7193968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72792838	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053536	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061569	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8061854	0.97[EUR][1000 genomes];0.99[ASN][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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70647400-70669200	Weak transcription	Right Atrium	heart
2	chr16:70659200-70668800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:70661200-70669000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:70663000-70669000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:70663400-70668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:70665200-70668800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:70665200-70669000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:70665400-70669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:70665400-70669200	Weak transcription	Fetal Intestine Small	intestine
10	chr16:70665600-70668800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:70666000-70669000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
13	chr16:70666200-70669200	Weak transcription	Ovary	ovary
14	chr16:70666600-70668600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:70666600-70668600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:70666600-70669000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:70666600-70669000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:70666600-70669400	Enhancers	HepG2	liver

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