Variant report

Variant	rs10804630
Chromosome Location	chr3:133997989-133997990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1131262	0.88[GIH][hapmap];0.93[MEX][hapmap]
rs3890774	0.87[GIH][hapmap];0.80[MEX][hapmap]
rs4682664	0.87[GIH][hapmap];0.93[MEX][hapmap]
rs6762690	0.87[GIH][hapmap];0.93[MEX][hapmap]
rs7355922	0.81[EUR][1000 genomes]
rs9817263	0.85[AFR][1000 genomes]
rs9818714	0.88[GIH][hapmap];0.93[MEX][hapmap]
rs9839819	0.88[GIH][hapmap];0.93[MEX][hapmap]
rs9856298	0.88[GIH][hapmap];0.93[MEX][hapmap]
rs9858450	0.88[GIH][hapmap];0.93[MEX][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10804630	DBR1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133993400-133998200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:133996800-133998000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:133996800-133998000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:133996800-133998000	Weak transcription	Adipose Nuclei	Adipose
5	chr3:133997000-133998000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:133997000-133998000	Weak transcription	Placenta	Placenta
7	chr3:133997000-133998200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:133997000-133998200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:133997000-133998200	Weak transcription	Esophagus	oesophagus
10	chr3:133997200-133998200	Weak transcription	Fetal Stomach	stomach
11	chr3:133997200-133998400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:133997800-133998200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:133997800-133999600	Enhancers	Fetal Lung	lung

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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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