Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12480584	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481007	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481707	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994239	1.00[JPT][hapmap]
rs1884390	1.00[JPT][hapmap]
rs1884393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064645	1.00[JPT][hapmap]
rs2064646	1.00[JPT][hapmap]
rs2273321	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2873522	1.00[JPT][hapmap]
rs3829697	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275406	1.00[ASN][1000 genomes]
rs6033935	1.00[JPT][hapmap]
rs6105101	1.00[JPT][hapmap]
rs6109984	1.00[JPT][hapmap]
rs6109989	1.00[JPT][hapmap]
rs8118710	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8123855	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984497	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984498	0.93[CEU][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]

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	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17793360	KLF5	trans	lymphoblastoid	seeQTL
rs17793360	FKBP1A	cis	multi-tissue	Pritchard
rs17793360	PSMF1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1471600-1475800	Enhancers	Primary B cells from peripheral blood	blood
2	chr20:1471600-1478400	Weak transcription	NHEK	skin
3	chr20:1471600-1478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:1472200-1476000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr20:1472400-1475600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr20:1472400-1476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:1472600-1475000	Enhancers	Primary hematopoietic stem cells	blood
8	chr20:1472600-1475400	Enhancers	Primary T cells from cord blood	blood
9	chr20:1472600-1476200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:1473000-1476000	Enhancers	Primary B cells from cord blood	blood
11	chr20:1473000-1476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:1473000-1479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:1474000-1475400	Enhancers	GM12878-XiMat	blood
14	chr20:1474000-1479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:1474200-1475400	Enhancers	Fetal Thymus	thymus
16	chr20:1474800-1475200	Enhancers	Primary neutrophils fromperipheralblood	blood

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