Variant report

Variant	rs62050791
Chromosome Location	chr16:80117978-80117979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80116624..80119575-chr16:80356454..80358256,2	MCF-7	breast:
2	chr16:79636116..79636725-chr16:80117801..80118678,2	K562	blood:
3	chr16:80112188..80115143-chr16:80115792..80118787,2	K562	blood:
4	chr16:80058579..80060805-chr16:80116598..80118912,2	MCF-7	breast:
5	chr16:80030381..80031931-chr16:80117976..80119153,11	MCF-7	breast:
6	chr16:80061252..80063823-chr16:80117741..80119543,2	MCF-7	breast:
7	chr16:79666209..79667056-chr16:80117924..80118676,2	K562	blood:
8	chr16:79791197..79791801-chr16:80117240..80117982,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs62049488	1.00[AFR][1000 genomes]
rs62050789	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62050790	1.00[AFR][1000 genomes]
rs62050792	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62050795	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62050803	0.98[EUR][1000 genomes]
rs62050804	0.93[EUR][1000 genomes]
rs62050805	0.81[EUR][1000 genomes]
rs62050806	1.00[AFR][1000 genomes]
rs62050837	1.00[AFR][1000 genomes]
rs62050841	1.00[AFR][1000 genomes]
rs62050845	1.00[AFR][1000 genomes]
rs8046908	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80108800-80118000	Weak transcription	Fetal Stomach	stomach
2	chr16:80112800-80118600	Enhancers	Fetal Intestine Small	intestine
3	chr16:80113200-80118000	Weak transcription	Liver	Liver
4	chr16:80116000-80118400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr16:80116200-80118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:80117200-80118600	Enhancers	Fetal Intestine Large	intestine
7	chr16:80117600-80118600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:80117800-80118400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:80117800-80119000	Enhancers	Fetal Lung	lung

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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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