Variant report

Variant	rs11719058
Chromosome Location	chr3:134637946-134637947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11707204	0.82[JPT][hapmap]
rs11709198	0.82[JPT][hapmap]
rs17707511	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv460859	chr3:134626339-134645710	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11719058	STAG1	cis	parietal	SCAN
rs11719058	UBA5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134630600-134639200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:134631800-134640000	Weak transcription	Fetal Brain Female	brain
3	chr3:134632400-134638800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:134632600-134639800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:134635600-134638600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:134636200-134638200	Enhancers	Dnd41	blood
7	chr3:134636200-134638200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:134636600-134638200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:134636600-134638400	Flanking Active TSS	GM12878-XiMat	blood
10	chr3:134637000-134639800	Enhancers	Psoas Muscle	Psoas
11	chr3:134637600-134639800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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