Variant report

Variant	rs2931464
Chromosome Location	chr2:54911752-54911753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10180713	0.95[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs1047499	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs11892788	0.90[CEU][hapmap]
rs12104998	0.80[CEU][hapmap]
rs12105792	0.80[CEU][hapmap]
rs12467581	0.87[EUR][1000 genomes]
rs12468469	0.82[EUR][1000 genomes]
rs12713260	0.82[EUR][1000 genomes]
rs13016942	0.85[CEU][hapmap]
rs1367295	0.80[CEU][hapmap]
rs1510611	0.85[JPT][hapmap]
rs1541854	0.86[EUR][1000 genomes]
rs168506	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs171350	0.91[EUR][1000 genomes]
rs17344072	0.85[CEU][hapmap]
rs17521078	0.80[CEU][hapmap]
rs1864493	0.85[CEU][hapmap]
rs2292356	0.87[EUR][1000 genomes]
rs2292357	0.83[EUR][1000 genomes]
rs2931463	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2941586	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2941587	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2941591	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2941595	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2971874	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2971875	0.81[EUR][1000 genomes]
rs2971877	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs2971879	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs2971883	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2971887	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs354187	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs354213	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs354223	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs354224	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs354226	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs354228	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs354231	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs354237	0.83[CHB][hapmap]
rs354238	0.80[CHB][hapmap]
rs3796014	0.86[EUR][1000 genomes]
rs4444573	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4455199	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4519562	0.87[EUR][1000 genomes]
rs4671222	0.81[CEU][hapmap]
rs4671225	0.81[CEU][hapmap]
rs4671945	0.81[CEU][hapmap]
rs4671951	0.85[CEU][hapmap]
rs4671956	0.85[CEU][hapmap]
rs4671960	0.81[CEU][hapmap]
rs4671961	0.82[CEU][hapmap]
rs6545419	0.86[CEU][hapmap]
rs6545427	0.81[CEU][hapmap]
rs6545429	0.84[CEU][hapmap]
rs6545434	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6704769	0.81[CEU][hapmap]
rs6706372	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6731661	0.95[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6732949	0.95[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6734658	0.86[EUR][1000 genomes]
rs6735813	0.84[EUR][1000 genomes]
rs6748816	0.87[EUR][1000 genomes]
rs6760298	0.85[JPT][hapmap]
rs6761369	0.81[CEU][hapmap]
rs6761398	0.80[CEU][hapmap]
rs7607451	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs907135	0.95[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.81[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	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
rs2931464	EML6	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 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	chr2:54911000-54918600	Weak transcription	HepG2	liver
6	chr2:54911000-54919000	Weak transcription	Pancreas	Pancrea
7	chr2:54911200-54914800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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