Variant report

Variant	rs1027950
Chromosome Location	chr2:54917563-54917564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54784126..54785998-chr2:54916607..54919364,2	K562	blood:
2	chr2:54902287..54904754-chr2:54917097..54919271,2	K562	blood:
3	chr2:54783616..54785998-chr2:54916607..54919364,3	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1052788	1.00[YRI][hapmap]
rs1052820	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs12475342	0.83[JPT][hapmap]
rs12611806	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12612665	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12620195	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12622340	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1510612	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17046153	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17416284	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs1848923	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2007020	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2567837	0.89[ASN][1000 genomes]
rs354188	0.93[ASN][1000 genomes]
rs354215	0.97[ASN][1000 genomes]
rs3817163	0.90[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs4671229	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4671952	0.82[CEU][hapmap]
rs4671959	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap]
rs4671962	0.83[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4671965	0.86[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes]
rs4671966	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4671968	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56898160	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545433	0.82[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs6545438	0.91[CHB][hapmap]
rs6705756	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap]
rs6738725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618665	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618666	0.87[EUR][1000 genomes]
rs72618667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618668	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72618669	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9309255	0.82[CEU][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1027950	EML6	cis	Artery Tibial	GTEx
rs1027950	SPTBN1	Cis_1M	lymphoblastoid	RTeQTL

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	chr2:54911000-54918600	Weak transcription	HepG2	liver
3	chr2:54911000-54919000	Weak transcription	Pancreas	Pancrea
4	chr2:54915200-54918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:54915400-54918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:54915600-54918800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:54916200-54919000	Weak transcription	Stomach Mucosa	stomach

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