Variant report

Variant	rs9930818
Chromosome Location	chr16:79666429-79666430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28458208	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28498074	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28514469	0.95[AFR][1000 genomes]
rs28644219	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6564683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941283	0.97[AFR][1000 genomes];1.00[AMR][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	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79664600-79667000	Weak transcription	Fetal Intestine Small	intestine
2	chr16:79665800-79666800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:79665800-79666800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:79665800-79666800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr16:79665800-79666800	Enhancers	NHEK	skin
6	chr16:79665800-79667000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:79666000-79666600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:79666000-79666600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:79666000-79666600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:79666000-79667000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:79666000-79667000	Enhancers	HMEC	breast
12	chr16:79666200-79666600	Enhancers	A549	lung
13	chr16:79666200-79667200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:79666400-79682200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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