Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:46511168-46511693	HL-60	blood:	n/a	chr3:46511570-46511583

Variant related genes	Relation type
LTF	TF binding region

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

rs_ID	r²[population]
rs10514713	1.00[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs10865941	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10865942	0.91[JPT][hapmap]
rs11130093	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs11130094	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs11706090	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12489117	0.81[EUR][1000 genomes]
rs12496623	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs12638228	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1402151	1.00[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1520483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2139634	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683242	0.82[JPT][hapmap]
rs55950019	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233078	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6762703	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6763280	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883739	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs883740	0.82[JPT][hapmap]
rs885486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46507400-46522400	Weak transcription	Gastric	stomach
2	chr3:46507600-46514200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr3:46507800-46513400	Enhancers	Left Ventricle	heart
4	chr3:46508200-46511400	Weak transcription	Lung	lung
5	chr3:46509000-46511200	Weak transcription	Spleen	Spleen
6	chr3:46509200-46513400	Enhancers	Psoas Muscle	Psoas
7	chr3:46509400-46514000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr3:46509600-46511600	Enhancers	Fetal Muscle Leg	muscle
9	chr3:46509600-46511800	Enhancers	Right Atrium	heart
10	chr3:46509600-46512600	Enhancers	Right Ventricle	heart
11	chr3:46509800-46512000	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:46510000-46512400	Enhancers	HSMMtube	muscle
13	chr3:46510600-46512000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:46510600-46512000	Enhancers	Adipose Nuclei	Adipose
15	chr3:46510600-46512000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:46510800-46511600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr3:46510800-46511800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:46510800-46513200	Enhancers	Pancreas	Pancrea
19	chr3:46511000-46511200	Enhancers	Brain Substantia Nigra	brain
20	chr3:46511000-46512000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:46511000-46513600	Weak transcription	Primary B cells from cord blood	blood

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