Variant report

Variant	rs7116456
Chromosome Location	chr11:23955313-23955314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10734348	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10767140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10767142	0.96[AFR][1000 genomes]
rs10767144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1919220	1.00[AMR][1000 genomes]
rs2037833	1.00[AMR][1000 genomes]
rs4350361	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126341	0.85[AFR][1000 genomes]

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	nsv897062	chr11:23687928-24031627	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916840	chr11:23710275-24064119	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Systolic blood pressure (alcohol consumption interaction)	24376456	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23953200-23955400	Enhancers	HUVEC	blood vessel
2	chr11:23953800-23955400	Enhancers	Stomach Mucosa	stomach
3	chr11:23954000-23955400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:23954800-23955600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:23955000-23955600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:23955000-23955600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:23955200-23955400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links