Variant report

Variant	rs6131559
Chromosome Location	chr20:1472702-1472703
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr20:1472683-1472742	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr20:1472602-1472792	MCF10A-Er-Src	breast:	n/a	n/a
3	SPI1	chr20:1471867-1473336	HL-60	blood:	n/a	chr20:1472270-1472283
4	POLR2A	chr20:1471682-1473023	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr20:1471849-1473033	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr20:1472643-1472747	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA2	chr20:1472043-1472987	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
SIRPB2	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1543423	0.90[ASN][1000 genomes]
rs1884387	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2143832	0.89[ASN][1000 genomes]
rs2873565	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6033867	0.90[ASN][1000 genomes]
rs6033901	0.99[ASN][1000 genomes]
rs6033910	0.98[ASN][1000 genomes]
rs6033950	0.87[ASN][1000 genomes]
rs6042499	0.89[ASN][1000 genomes]
rs6042500	0.90[ASN][1000 genomes]
rs6042592	0.98[ASN][1000 genomes]
rs6042602	0.98[ASN][1000 genomes]
rs6042611	0.96[ASN][1000 genomes]
rs6042650	0.93[ASN][1000 genomes]
rs6074709	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6074718	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6079277	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6079288	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6079289	0.91[ASN][1000 genomes]
rs6079294	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6079302	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6079317	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6079330	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6079336	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6079354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6079361	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6079362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6079376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6105233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6105234	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6105240	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6110169	0.92[ASN][1000 genomes]
rs6110207	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6110215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6110226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6110228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6110253	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6110261	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6110262	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6131543	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6131553	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6135048	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6135050	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6135060	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6135061	0.91[ASN][1000 genomes]
rs6135062	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6135063	0.92[ASN][1000 genomes]
rs6135064	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6135068	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6135069	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6135080	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6135089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6135095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6135105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7270432	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963867	0.90[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6131559	SIRPB2	cis	lung	GTEx
rs6131559	SIRPB2	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1469200-1473000	Enhancers	HMEC	breast
2	chr20:1469800-1474000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr20:1470000-1473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:1470600-1473000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr20:1471000-1473000	Flanking Active TSS	HUVEC	blood vessel
6	chr20:1471200-1473000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:1471400-1473400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:1471600-1473000	Enhancers	Spleen	Spleen
9	chr20:1471600-1475800	Enhancers	Primary B cells from peripheral blood	blood
10	chr20:1471600-1478400	Weak transcription	NHEK	skin
11	chr20:1471600-1478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:1471800-1473000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr20:1471800-1474000	Enhancers	Fetal Thymus	thymus
14	chr20:1472000-1472800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr20:1472000-1473000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr20:1472200-1472800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr20:1472200-1473000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr20:1472200-1473200	Enhancers	Placenta	Placenta
19	chr20:1472200-1476000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr20:1472400-1472800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr20:1472400-1473000	Enhancers	Adipose Nuclei	Adipose
22	chr20:1472400-1475600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr20:1472400-1476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr20:1472600-1472800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:1472600-1472800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr20:1472600-1473000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:1472600-1473000	Enhancers	GM12878-XiMat	blood
28	chr20:1472600-1475000	Enhancers	Primary hematopoietic stem cells	blood
29	chr20:1472600-1475400	Enhancers	Primary T cells from cord blood	blood
30	chr20:1472600-1476200	Enhancers	Primary monocytes fromperipheralblood	blood

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