Variant report

Variant	rs34367220
Chromosome Location	chr6:48399025-48399026
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1013401	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10456584	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202558	0.85[EUR][1000 genomes]
rs12664774	0.90[EUR][1000 genomes]
rs1348411	0.90[EUR][1000 genomes]
rs1373189	0.81[EUR][1000 genomes]
rs1373191	0.81[EUR][1000 genomes]
rs1582092	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1582093	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17289609	0.84[EUR][1000 genomes]
rs2078415	0.91[EUR][1000 genomes]
rs2396863	0.90[EUR][1000 genomes]
rs2396865	0.90[EUR][1000 genomes]
rs2586826	0.85[EUR][1000 genomes]
rs2586827	0.87[EUR][1000 genomes]
rs2798765	0.81[EUR][1000 genomes]
rs2996265	0.85[EUR][1000 genomes]
rs2996266	0.85[EUR][1000 genomes]
rs2996267	0.84[EUR][1000 genomes]
rs6927980	0.89[EUR][1000 genomes]
rs9463405	0.90[EUR][1000 genomes]
rs9473361	0.90[EUR][1000 genomes]
rs9473384	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv603035	chr6:47902243-48700995	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885877	chr6:48117685-48626930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv917050	chr6:48168742-48578496	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830657	chr6:48387714-48566656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48396600-48399200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48396600-48399200	Enhancers	A549	lung
3	chr6:48396600-48399200	Enhancers	HMEC	breast
4	chr6:48398000-48399200	Enhancers	HepG2	liver
5	chr6:48398200-48399600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:48398400-48401000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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