Variant report

Variant	rs13255648
Chromosome Location	chr8:130273697-130273698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12546163	1.00[AFR][1000 genomes]
rs13252273	1.00[EUR][1000 genomes]
rs34515997	1.00[AMR][1000 genomes]
rs35694469	1.00[AFR][1000 genomes]
rs71522545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130254000-130282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130267200-130274800	Weak transcription	Fetal Thymus	thymus
3	chr8:130271800-130280000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:130272800-130274000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130273000-130274000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:130273200-130274000	Weak transcription	Dnd41	blood
7	chr8:130273400-130279400	Weak transcription	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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