Variant report

Variant	rs12288723
Chromosome Location	chr11:10440344-10440345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10743141	0.84[ASN][1000 genomes]
rs10770117	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042789	0.84[ASN][1000 genomes]
rs11042793	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450274	0.84[ASN][1000 genomes]
rs3741044	0.88[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs4910133	0.84[ASN][1000 genomes]
rs7103886	0.81[ASN][1000 genomes]
rs7103998	0.87[ASN][1000 genomes]
rs7109187	0.99[ASN][1000 genomes]
rs7119498	0.81[CHB][hapmap]
rs763471	1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs9666586	0.85[ASN][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12288723	ST5	cis	cerebellum	SCAN
rs12288723	IPO7	cis	cerebellum	SCAN
rs12288723	DNHD1	cis	cerebellum	SCAN
rs12288723	FAR1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10430000-10441000	Weak transcription	Right Atrium	heart
2	chr11:10437600-10440400	Weak transcription	Adipose Nuclei	Adipose
3	chr11:10439400-10441800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:10439800-10440400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:10439800-10440800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:10439800-10441000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:10439800-10441200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:10440000-10440600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:10440200-10440400	Weak transcription	NHLF	lung
10	chr11:10440200-10440600	Flanking Active TSS	NHDF-Ad	bronchial
11	chr11:10440200-10440600	Flanking Active TSS	Osteobl	bone

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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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