Variant report

Variant	rs11799716
Chromosome Location	chr1:56314407-56314408
allele	A/G
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:8)

rs_ID	r²[population]
rs11801296	1.00[AMR][1000 genomes]
rs11801875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12563373	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56295200-56320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:56310400-56321200	Weak transcription	Psoas Muscle	Psoas
3	chr1:56314200-56314600	Enhancers	NHDF-Ad	bronchial
4	chr1:56314200-56315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56314200-56315000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:56314200-56315800	Weak transcription	H1 BMP4 Derived Trophoblast 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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