Variant report

Variant	rs71520886
Chromosome Location	chr8:105454016-105454017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11786825	1.00[ASN][1000 genomes]
rs13257283	1.00[ASN][1000 genomes]
rs17245950	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17834440	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34695252	1.00[ASN][1000 genomes]
rs35513452	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35907176	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57758950	0.85[EUR][1000 genomes]
rs6998185	0.84[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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105450200-105454400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:105450400-105454400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:105450600-105454400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:105450600-105454400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:105450600-105458800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:105450800-105454400	Weak transcription	Adipose Nuclei	Adipose
7	chr8:105452000-105459000	Strong transcription	Liver	Liver
8	chr8:105452400-105454200	Enhancers	NHDF-Ad	bronchial
9	chr8:105453200-105454200	Enhancers	NHLF	lung
10	chr8:105453200-105454600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:105453400-105454200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:105453800-105454200	Weak transcription	Monocytes-CD14+_RO01746	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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