Variant report

Variant	rs4998697
Chromosome Location	chr1:71358190-71358191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1327464	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs1359835	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1409162	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs1409977	0.80[CEU][hapmap];0.88[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131468	0.86[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs35755730	0.93[ASN][1000 genomes]
rs6424408	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6424409	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6656853	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs6672081	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7528081	0.90[ASN][1000 genomes]
rs7547606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71355600-71358200	Enhancers	Fetal Heart	heart
2	chr1:71355600-71359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:71356400-71359400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:71356600-71359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:71356600-71359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:71356600-71359200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:71356800-71358200	Enhancers	K562	blood
8	chr1:71356800-71359200	Enhancers	NHDF-Ad	bronchial
9	chr1:71357000-71358200	Weak transcription	Pancreas	Pancrea
10	chr1:71357400-71358800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:71358000-71358200	Enhancers	Gastric	stomach
12	chr1:71358000-71359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:71358000-71361000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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