Variant report

Variant	rs969693
Chromosome Location	chr6:80587739-80587740
allele	C/T
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:17)

rs_ID	r²[population]
rs1543475	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543476	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543477	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs163980	0.97[ASN][1000 genomes]
rs1849275	0.81[EUR][1000 genomes]
rs2164166	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2874814	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4706808	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706810	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4706814	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706815	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706816	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6919854	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744165	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9448847	0.80[ASN][1000 genomes]
rs9448848	0.80[ASN][1000 genomes]
rs9448849	0.80[ASN][1000 genomes]

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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3693359	chr6:80539454-80606537	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80579800-80588000	Weak transcription	Adipose Nuclei	Adipose
2	chr6:80579800-80588000	Weak transcription	Placenta	Placenta
3	chr6:80583400-80587800	Weak transcription	Fetal Heart	heart
4	chr6:80584800-80587800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:80584800-80587800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:80585400-80587800	Weak transcription	NHEK	skin
7	chr6:80585600-80588600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:80585600-80588800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:80585600-80589000	Enhancers	Liver	Liver
10	chr6:80587600-80589400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:80587600-80589800	Enhancers	HMEC	breast

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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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