Variant report

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

rs_ID	r²[population]
rs10169439	0.86[EUR][1000 genomes]
rs10175967	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10188185	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10194108	0.83[EUR][1000 genomes]
rs11883962	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11888644	0.85[EUR][1000 genomes]
rs11896957	0.82[AMR][1000 genomes]
rs12713276	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13419761	0.80[EUR][1000 genomes]
rs13428703	0.88[EUR][1000 genomes]
rs17046149	0.89[EUR][1000 genomes]
rs17046257	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33946849	0.89[EUR][1000 genomes]
rs354232	0.96[ASN][1000 genomes]
rs58878579	0.81[EUR][1000 genomes]
rs6545440	0.85[EUR][1000 genomes]
rs6708082	0.86[EUR][1000 genomes]
rs6732751	0.81[EUR][1000 genomes]
rs6740110	0.86[EUR][1000 genomes]
rs6744586	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6752720	0.88[EUR][1000 genomes]
rs6753004	0.88[EUR][1000 genomes]
rs67909358	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7582640	0.90[EUR][1000 genomes]
rs9917248	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv963149	chr2:54914350-54920863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34456795	EML6	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54908800-54921400	Weak transcription	Lung	lung
2	chr2:54919400-54922400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54919400-54924800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:54919600-54921200	Weak transcription	HepG2	liver
5	chr2:54919600-54921400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:54919800-54922800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:54919800-54925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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