Variant report

Variant	rs12928298
Chromosome Location	chr16:79844681-79844682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10871379	0.83[ASN][1000 genomes]
rs11150218	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11643120	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11648504	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11649168	0.89[ASN][1000 genomes]
rs11865391	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11865427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149226	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4243183	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4369685	0.81[ASN][1000 genomes]
rs4553644	0.81[ASN][1000 genomes]
rs4889036	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889037	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564708	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73572268	0.87[ASN][1000 genomes]
rs8063297	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79839800-79844800	Weak transcription	K562	blood
2	chr16:79841800-79844800	Weak transcription	Fetal Lung	lung
3	chr16:79843000-79847800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:79844000-79845200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:79844000-79846400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:79844200-79844800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:79844200-79845000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr16:79844200-79845000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:79844200-79845200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr16:79844200-79845800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:79844200-79846400	Enhancers	HMEC	breast
12	chr16:79844400-79845000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:79844400-79845000	Weak transcription	Esophagus	oesophagus
14	chr16:79844400-79845400	Flanking Active TSS	NHEK	skin
15	chr16:79844600-79845000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:79844600-79845000	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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