Variant report

Variant	rs11774600
Chromosome Location	chr8:130228853-130228854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10956466	0.83[EUR][1000 genomes]
rs11775284	0.90[EUR][1000 genomes]
rs13280541	0.90[AMR][1000 genomes]
rs4344040	0.84[EUR][1000 genomes]
rs4604396	0.83[EUR][1000 genomes]
rs6998274	0.90[AMR][1000 genomes]
rs72609879	0.81[ASN][1000 genomes]
rs7816117	0.90[AMR][1000 genomes]
rs8180979	0.84[EUR][1000 genomes]
rs9650102	0.81[ASN][1000 genomes]
rs9772218	0.90[EUR][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	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv612229	chr8:130213203-130252229	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130208200-130241600	Weak transcription	Thymus	Thymus
2	chr8:130227000-130229800	Strong transcription	Fetal Thymus	thymus
3	chr8:130227000-130233600	Genic enhancers	Dnd41	blood
4	chr8:130228600-130229800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:130228800-130229200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:130228800-130230000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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