Variant report

Variant	rs16889698
Chromosome Location	chr8:118400549-118400550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505298	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10505299	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1275440	1.00[EUR][1000 genomes]
rs16889703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889708	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1695684	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1695686	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17739730	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793747	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1793748	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1955080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936604	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4876721	0.81[AFR][1000 genomes]
rs73704299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv831435	chr8:118266417-118466651	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv972193	chr8:118399518-118413497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118397600-118401600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:118397600-118402000	Enhancers	HMEC	breast
3	chr8:118398000-118401600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:118398200-118401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:118398200-118401800	Enhancers	NHEK	skin
6	chr8:118398600-118400600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:118398600-118401600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:118398800-118409600	Weak transcription	NHDF-Ad	bronchial
9	chr8:118400400-118400600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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