Variant report

Variant	rs354187
Chromosome Location	chr2:54937742-54937743
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	chr2:54936799..54938418-chr2:54939824..54941892,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10180713	0.91[CEU][hapmap]
rs10191922	0.90[ASN][1000 genomes]
rs1047499	0.95[CEU][hapmap]
rs11892788	0.86[CEU][hapmap]
rs13016942	0.82[CEU][hapmap]
rs168503	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs168506	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168508	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs171350	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17344072	0.82[CEU][hapmap]
rs17416806	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs181348	0.85[ASN][1000 genomes]
rs1821138	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864493	0.82[CEU][hapmap]
rs187124	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs191628	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2567835	0.90[ASN][1000 genomes]
rs2931463	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2931464	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2941586	0.95[CEU][hapmap]
rs2941587	0.95[CEU][hapmap]
rs2941591	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2941595	0.91[CEU][hapmap]
rs2971874	1.00[AFR][1000 genomes]
rs2971877	0.95[CEU][hapmap]
rs2971879	0.95[CEU][hapmap]
rs2971883	0.88[EUR][1000 genomes]
rs2971889	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs354209	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354213	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs354214	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs354223	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354224	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs354226	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354228	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354231	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs354236	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs354237	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs354238	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs354243	0.88[ASN][1000 genomes]
rs4671951	0.82[CEU][hapmap]
rs4671956	0.82[CEU][hapmap]
rs6545419	0.82[CEU][hapmap]
rs6545429	0.80[CEU][hapmap]
rs6545434	0.95[CEU][hapmap]
rs6706372	0.95[CEU][hapmap]
rs6731661	0.91[CEU][hapmap]
rs6732949	0.91[CEU][hapmap]
rs7607451	0.95[CEU][hapmap]
rs907135	0.91[CEU][hapmap]

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
rs354187	EML6	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54937000-54938000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:54937200-54937800	Enhancers	Fetal Intestine Large	intestine
3	chr2:54937200-54939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:54937400-54937800	Flanking Active TSS	Pancreas	Pancrea
5	chr2:54937600-54937800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr2:54937600-54937800	Enhancers	Spleen	Spleen

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