Variant report

Variant	rs4551393
Chromosome Location	chr8:119521321-119521322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12674772	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs12682339	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34696241	1.00[ASN][1000 genomes]
rs4129893	0.88[CHB][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4242582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[ASN][1000 genomes]
rs4242583	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4242585	0.96[ASN][1000 genomes]
rs4421377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557731	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4876851	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876852	0.88[CEU][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56078225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56151246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62531882	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62531887	1.00[ASN][1000 genomes]
rs62531891	0.97[EUR][1000 genomes]
rs7015005	1.00[CEU][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][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	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119502000-119522400	Weak transcription	Pancreas	Pancrea
2	chr8:119517000-119522800	Enhancers	HMEC	breast
3	chr8:119517200-119522800	Enhancers	NHEK	skin
4	chr8:119518000-119522800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:119518200-119521600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:119518400-119523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:119518600-119523000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:119520000-119521800	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:119520600-119522200	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:119520800-119521600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:119520800-119522000	Enhancers	Liver	Liver
12	chr8:119520800-119522600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:119521200-119521400	Enhancers	Brain Angular Gyrus	brain
14	chr8:119521200-119522000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:119521200-119522000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:119521200-119522400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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