Variant report

Variant	rs163980
Chromosome Location	chr6:80605822-80605823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10455367	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1543475	0.95[ASN][1000 genomes]
rs1543476	0.95[ASN][1000 genomes]
rs1543477	0.95[ASN][1000 genomes]
rs163976	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1849275	0.81[ASN][1000 genomes]
rs2164166	0.96[ASN][1000 genomes]
rs237217	0.86[AMR][1000 genomes]
rs239522	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs2874814	0.96[ASN][1000 genomes]
rs4706808	0.97[ASN][1000 genomes]
rs4706810	0.96[ASN][1000 genomes]
rs4706814	0.96[ASN][1000 genomes]
rs4706815	0.96[ASN][1000 genomes]
rs4706816	0.96[ASN][1000 genomes]
rs4706817	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6919854	0.97[ASN][1000 genomes]
rs7744165	0.95[ASN][1000 genomes]
rs9448846	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448847	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9448848	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9448849	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9448851	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9448852	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs969693	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80603600-80606600	Enhancers	HMEC	breast
2	chr6:80604400-80606400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:80604600-80606400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:80604600-80606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:80604800-80606000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:80604800-80606200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:80605600-80606000	Enhancers	HSMM	muscle
8	chr6:80605600-80606000	Flanking Active TSS	NHEK	skin

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