Variant report

Variant	rs16889219
Chromosome Location	chr8:117901380-117901381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16888899	1.00[AFR][1000 genomes]
rs16888924	1.00[AFR][1000 genomes]
rs16889153	1.00[AFR][1000 genomes]
rs16889222	1.00[AFR][1000 genomes]
rs17435832	1.00[AFR][1000 genomes]
rs7825311	1.00[AFR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3409003	chr8:117901208-117901729	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117899600-117902000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:117899600-117902000	Enhancers	Hela-S3	cervix
3	chr8:117900000-117901800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:117900000-117902800	Weak transcription	HMEC	breast
5	chr8:117900200-117901600	Weak transcription	Osteobl	bone
6	chr8:117900200-117901800	Weak transcription	NHLF	lung
7	chr8:117900200-117902000	Enhancers	Dnd41	blood
8	chr8:117900400-117901600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:117901200-117902000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:117901200-117902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:117901200-117903600	Enhancers	HepG2	liver
12	chr8:117901200-117903800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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