Variant report

Variant	rs4147115
Chromosome Location	chr1:71356722-71356723
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11209709	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs12046641	0.89[CHB][hapmap]
rs1409161	0.82[CHB][hapmap]
rs17131481	0.85[CEU][hapmap]
rs17131483	0.89[CEU][hapmap]
rs17131484	0.85[CEU][hapmap]
rs17541597	0.82[CHB][hapmap]
rs4147114	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4649932	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4650093	0.85[CEU][hapmap]
rs66515565	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6687859	0.85[CEU][hapmap]
rs7521005	0.81[CEU][hapmap]
rs942977	0.82[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv871604	chr1:71353104-71361673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71346000-71357000	Weak transcription	Adipose Nuclei	Adipose
2	chr1:71354600-71357600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:71355600-71356800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:71355600-71356800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71355600-71358200	Enhancers	Fetal Heart	heart
6	chr1:71355600-71359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:71356400-71359400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:71356600-71356800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:71356600-71356800	Flanking Active TSS	K562	blood
10	chr1:71356600-71357000	Enhancers	Fetal Lung	lung
11	chr1:71356600-71357000	Enhancers	Gastric	stomach
12	chr1:71356600-71357000	Enhancers	Pancreas	Pancrea
13	chr1:71356600-71358000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:71356600-71358000	Enhancers	HSMMtube	muscle
15	chr1:71356600-71359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:71356600-71359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:71356600-71359200	Enhancers	Monocytes-CD14+_RO01746	blood

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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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