Variant report

Variant	rs72799376
Chromosome Location	chr16:69554065-69554066
allele	G/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:9)

rs_ID	r²[population]
rs12596731	0.97[ASN][1000 genomes]
rs12597243	0.97[ASN][1000 genomes]
rs12599648	0.97[ASN][1000 genomes]
rs2161631	0.92[ASN][1000 genomes]
rs7187653	0.87[ASN][1000 genomes]
rs7194753	0.86[ASN][1000 genomes]
rs7197614	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7200935	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9929720	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:18 , 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	chr16:69549200-69560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:69549400-69554600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:69549600-69554800	Weak transcription	A549	lung
11	chr16:69549600-69563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:69550000-69554600	Weak transcription	NHEK	skin
13	chr16:69550000-69555000	Weak transcription	Hela-S3	cervix
14	chr16:69550000-69557000	Weak transcription	Placenta	Placenta
15	chr16:69552400-69563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:69553400-69554600	Enhancers	HepG2	liver
17	chr16:69553800-69554200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr16:69553800-69554400	Enhancers	GM12878-XiMat	blood

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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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