Variant report

Variant	rs996382
Chromosome Location	chr13:80452772-80452773
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:10)

rs_ID	r²[population]
rs12584575	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563138	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6563144	1.00[CEU][hapmap]
rs6563145	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139668	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7321144	0.88[EUR][1000 genomes]
rs73224591	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7324097	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318659	0.96[ASN][1000 genomes]
rs9545243	0.93[CEU][hapmap]

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	nsv1048990	chr13:80419496-80456454	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv1044254	chr13:80419496-80457686	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80449000-80472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80449400-80458800	Weak transcription	Thymus	Thymus
3	chr13:80451800-80454200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr13:80452000-80452800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:80452200-80452800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:80452200-80452800	Enhancers	Fetal Lung	lung
7	chr13:80452400-80452800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:80452400-80452800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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