Variant report

Variant	rs62416542
Chromosome Location	chr6:54847104-54847105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12055817	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12175211	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16886188	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35576476	0.95[ASN][1000 genomes]
rs3813847	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4594937	0.95[ASN][1000 genomes]
rs62414962	0.82[EUR][1000 genomes]
rs62414963	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62416361	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62416376	0.88[EUR][1000 genomes]
rs62416415	0.88[EUR][1000 genomes]
rs62416457	0.88[EUR][1000 genomes]
rs62416516	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62416519	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62416520	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62416521	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71560884	1.00[ASN][1000 genomes]
rs9349746	0.95[ASN][1000 genomes]
rs9357821	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357827	0.95[ASN][1000 genomes]
rs9357828	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9357830	0.90[ASN][1000 genomes]
rs9357833	0.88[EUR][1000 genomes]
rs9357834	0.88[EUR][1000 genomes]
rs9367598	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9367603	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367613	0.88[EUR][1000 genomes]
rs9370338	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370339	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370340	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370341	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370349	1.00[ASN][1000 genomes]
rs9370356	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9370365	0.95[ASN][1000 genomes]
rs9370368	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9370372	0.88[EUR][1000 genomes]
rs9370376	0.88[EUR][1000 genomes]
rs9382401	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9382410	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9382412	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382423	0.95[ASN][1000 genomes]
rs9382424	0.95[ASN][1000 genomes]
rs9382425	0.89[ASN][1000 genomes]
rs9382433	0.88[EUR][1000 genomes]
rs9382439	0.88[EUR][1000 genomes]
rs9382451	0.88[EUR][1000 genomes]
rs9382453	0.88[EUR][1000 genomes]
rs9396026	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9396027	0.84[ASN][1000 genomes]
rs9396029	0.95[ASN][1000 genomes]
rs9396030	0.95[ASN][1000 genomes]
rs9396031	0.83[EUR][1000 genomes]
rs9396037	0.88[EUR][1000 genomes]
rs9396048	0.83[EUR][1000 genomes]
rs9396049	0.83[EUR][1000 genomes]
rs9637955	0.88[EUR][1000 genomes]
rs980823	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv5309	chr6:54834971-54855729	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
3	nsv603134	chr6:54841672-54851340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv20291	chr6:54846098-54851665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3474002	chr6:54846245-54851547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3474003	chr6:54846291-54851530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3474001	chr6:54846368-54851443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv514361	chr6:54846369-54848773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv499725	chr6:54846381-54851446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv3474004	chr6:54846382-54851446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54845400-54847200	Enhancers	HMEC	breast
2	chr6:54845400-54847200	Enhancers	NHEK	skin
3	chr6:54847000-54847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:54847000-54854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:54847000-54856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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