Variant report

Variant	rs72799372
Chromosome Location	chr16:69549226-69549227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69541589..69544801-chr16:69546329..69549438,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs72799373	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72799378	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72799379	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72799381	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72799385	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72799386	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72799387	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72799393	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8049366	0.94[AMR][1000 genomes];0.92[EUR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69544000-69549800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:69546800-69550200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:69547000-69550000	Enhancers	Hela-S3	cervix
4	chr16:69547000-69550000	Enhancers	HMEC	breast
5	chr16:69547200-69549400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:69547200-69549400	Enhancers	Placenta	Placenta
7	chr16:69547200-69549600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:69547200-69550000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:69547600-69555400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:69547800-69554600	Weak transcription	HSMMtube	muscle
11	chr16:69548200-69554200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:69548200-69554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:69548200-69554800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:69548200-69563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:69548400-69550200	Enhancers	HepG2	liver
16	chr16:69548600-69550000	Enhancers	NHEK	skin
17	chr16:69548600-69556600	Weak transcription	K562	blood
18	chr16:69548800-69553800	Weak transcription	GM12878-XiMat	blood
19	chr16:69549000-69549800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr16:69549200-69549400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:69549200-69549600	Enhancers	A549	lung
22	chr16:69549200-69549600	Enhancers	Osteobl	bone
23	chr16:69549200-69550000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:69549200-69560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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