Variant report

Variant	rs7196281
Chromosome Location	chr16:69551935-69551936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13330995	1.00[AMR][1000 genomes]
rs13332880	1.00[AMR][1000 genomes]
rs13336357	1.00[AMR][1000 genomes]
rs28402794	1.00[AMR][1000 genomes]
rs28514573	1.00[AMR][1000 genomes]
rs28535427	1.00[AMR][1000 genomes]
rs28607148	1.00[AMR][1000 genomes]
rs28628240	1.00[AMR][1000 genomes]
rs7196801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74025780	1.00[AMR][1000 genomes]
rs8049348	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9674055	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921301	1.00[AMR][1000 genomes]
rs9923096	1.00[AMR][1000 genomes]
rs9924073	1.00[AMR][1000 genomes]
rs9924364	1.00[AMR][1000 genomes]
rs9925245	1.00[AMR][1000 genomes]
rs9926382	1.00[AMR][1000 genomes]
rs9926822	1.00[AMR][1000 genomes]
rs9932104	1.00[AMR][1000 genomes]
rs9933583	1.00[AMR][1000 genomes]
rs9937762	1.00[AMR][1000 genomes]
rs9938552	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	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69547600-69555400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:69547800-69554600	Weak transcription	HSMMtube	muscle
3	chr16:69548200-69554200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:69548200-69554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:69548200-69554800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:69548200-69563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:69548600-69556600	Weak transcription	K562	blood
8	chr16:69548800-69553800	Weak transcription	GM12878-XiMat	blood
9	chr16:69549200-69560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:69549400-69554600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:69549600-69554800	Weak transcription	A549	lung
12	chr16:69549600-69563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:69550000-69552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:69550000-69554600	Weak transcription	NHEK	skin
15	chr16:69550000-69555000	Weak transcription	Hela-S3	cervix
16	chr16:69550000-69557000	Weak transcription	Placenta	Placenta
17	chr16:69550200-69552800	Weak transcription	HepG2	liver

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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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