Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54899732..54901951-chr2:54909870..54911861,2	MCF-7	breast:
2	chr2:54907957..54910043-chr2:54910399..54913105,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10169439	0.84[EUR][1000 genomes]
rs10175967	0.87[EUR][1000 genomes]
rs10188185	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10194108	0.81[EUR][1000 genomes]
rs11883962	0.82[EUR][1000 genomes]
rs12713273	0.82[ASN][1000 genomes]
rs12713276	0.86[EUR][1000 genomes]
rs13428703	0.82[EUR][1000 genomes]
rs17046108	0.88[ASN][1000 genomes]
rs17046149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048370	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241661	0.85[ASN][1000 genomes]
rs34456795	0.89[EUR][1000 genomes]
rs354225	0.83[ASN][1000 genomes]
rs3739109	0.93[ASN][1000 genomes]
rs3850350	0.83[AMR][1000 genomes]
rs6708082	0.84[EUR][1000 genomes]
rs6740110	0.84[EUR][1000 genomes]
rs6744586	0.82[EUR][1000 genomes]
rs6752720	0.82[EUR][1000 genomes]
rs6753004	0.82[EUR][1000 genomes]
rs67909358	0.82[EUR][1000 genomes]
rs9917248	0.88[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs33946849	EML6	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54903400-54915600	Weak transcription	Right Atrium	heart
2	chr2:54908000-54914800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:54908200-54914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:54908800-54921400	Weak transcription	Lung	lung
5	chr2:54910800-54911200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:54910800-54911400	Enhancers	Fetal Intestine Large	intestine
7	chr2:54910800-54911400	Enhancers	HMEC	breast
8	chr2:54911000-54918600	Weak transcription	HepG2	liver
9	chr2:54911000-54919000	Weak transcription	Pancreas	Pancrea

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