Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159045007..159047790-chr1:159051781..159054350,3	K562	blood:
2	chr1:159048113..159051506-chr1:159051695..159053675,3	K562	blood:

Variant related genes	Relation type
ENSG00000163568	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1057027	0.83[CEU][hapmap]
rs1057028	0.83[CEU][hapmap]
rs12124059	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs1417804	0.80[EUR][1000 genomes]
rs1614182	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1633256	0.83[CEU][hapmap]
rs1633262	0.82[EUR][1000 genomes]
rs1633265	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1633266	0.86[JPT][hapmap]
rs1772405	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1772408	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs1772414	0.83[CEU][hapmap]
rs1772415	0.83[CEU][hapmap]
rs1894043	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2078723	0.86[ASN][1000 genomes]
rs2518563	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518564	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518565	0.86[ASN][1000 genomes]
rs2570916	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs2814757	0.82[ASN][1000 genomes]
rs2814759	0.86[ASN][1000 genomes]
rs2814760	0.86[ASN][1000 genomes]
rs2814764	0.96[ASN][1000 genomes]
rs2852723	0.86[ASN][1000 genomes]
rs855865	0.83[CEU][hapmap]
rs855867	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs855871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs856052	0.84[CEU][hapmap]
rs856053	0.84[CEU][hapmap]
rs856054	1.00[YRI][hapmap]
rs856058	0.84[CEU][hapmap]
rs861318	0.83[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs855866	AIM2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159038600-159056400	Weak transcription	Spleen	Spleen
2	chr1:159048000-159053600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:159048200-159053600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:159049600-159058000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:159051200-159063400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:159052200-159053600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:159052400-159056400	Enhancers	Primary B cells from cord blood	blood

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