Variant report

Variant	rs62416519
Chromosome Location	chr6:54810750-54810751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54810051..54812419-chr6:54813190..54815495,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12175211	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16886094	0.88[EUR][1000 genomes]
rs16886188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35576476	0.84[ASN][1000 genomes]
rs3813847	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4594937	0.84[ASN][1000 genomes]
rs62412651	0.88[EUR][1000 genomes]
rs62412652	0.83[EUR][1000 genomes]
rs62412655	0.88[EUR][1000 genomes]
rs62412657	0.88[EUR][1000 genomes]
rs62412658	0.88[EUR][1000 genomes]
rs62412659	0.88[EUR][1000 genomes]
rs62414962	0.94[EUR][1000 genomes]
rs62414963	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62416516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62416520	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62416521	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62416542	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71560884	0.89[ASN][1000 genomes]
rs9349746	0.84[ASN][1000 genomes]
rs9357821	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357824	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9357827	0.84[ASN][1000 genomes]
rs9367598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367603	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370338	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370340	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370341	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370349	0.89[ASN][1000 genomes]
rs9370365	0.84[ASN][1000 genomes]
rs9382401	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9382410	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9382412	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9382413	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9382423	0.84[ASN][1000 genomes]
rs9382424	0.84[ASN][1000 genomes]
rs9396029	0.84[ASN][1000 genomes]
rs9396030	0.84[ASN][1000 genomes]
rs980823	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54797000-54811800	Weak transcription	Esophagus	oesophagus
2	chr6:54798800-54815600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:54802600-54810800	Weak transcription	Pancreas	Pancrea
4	chr6:54805400-54811400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:54807400-54818000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:54807800-54815200	Weak transcription	NHEK	skin
7	chr6:54809200-54811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:54809400-54817600	Weak transcription	HMEC	breast
9	chr6:54809600-54814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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