Variant report

Variant	rs59051221
Chromosome Location	chr12:48554856-48554857
allele	C/T
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	SPI1	chr12:48554610-48554949	GM12891	blood:	n/a	chr12:48554785-48554798 chr12:48554787-48554796 chr12:48554788-48554795
2	SPI1	chr12:48554652-48554954	GM12878	blood:	n/a	chr12:48554785-48554798 chr12:48554787-48554796 chr12:48554788-48554795
3	SPI1	chr12:48554651-48554887	K562	blood:	n/a	chr12:48554785-48554798 chr12:48554787-48554796 chr12:48554788-48554795
4	SPI1	chr12:48554522-48555076	HL-60	blood:	n/a	chr12:48554785-48554798 chr12:48554787-48554796 chr12:48554788-48554795
5	SPI1	chr12:48554643-48555054	HL-60	blood:	n/a	chr12:48554785-48554798 chr12:48554787-48554796 chr12:48554788-48554795
6	POU2F2	chr12:48554647-48554904	GM12891	blood:	n/a	n/a
7	GATA1	chr12:48554213-48555189	PBDE	blood:	n/a	chr12:48554364-48554372
8	SPI1	chr12:48554564-48554921	GM12891	blood:	n/a	chr12:48554785-48554798 chr12:48554787-48554796 chr12:48554788-48554795
9	TAL1	chr12:48554650-48554909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48495831..48503326-chr12:48548997..48555180,8	K562	blood:

Variant related genes	Relation type
ASB8	TF binding region
ENSG00000258051	TF binding region
ENSG00000152556	Chromatin interaction
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55759881	0.83[AMR][1000 genomes]
rs55789595	0.83[AMR][1000 genomes]
rs55991805	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57539024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148022	0.83[AMR][1000 genomes]
rs58373242	0.83[AMR][1000 genomes]
rs59643562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59787033	1.00[AMR][1000 genomes]
rs59896935	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60001451	1.00[AMR][1000 genomes]
rs60316794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61558457	1.00[AMR][1000 genomes]
rs61750873	0.83[AMR][1000 genomes]
rs7316275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086781	0.83[AMR][1000 genomes]
rs74086968	0.83[AMR][1000 genomes]
rs74086984	1.00[AMR][1000 genomes]
rs74089112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089120	1.00[AMR][1000 genomes]
rs74089127	1.00[AMR][1000 genomes]
rs74089135	1.00[AMR][1000 genomes]
rs74089149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089160	0.83[AFR][1000 genomes]
rs74089161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089540	0.83[AMR][1000 genomes]
rs74089548	0.83[AMR][1000 genomes]
rs74089549	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48552000-48555800	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:48552000-48556600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:48552000-48557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:48552200-48556600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:48552800-48556000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:48553800-48555000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:48553800-48555400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:48553800-48555600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:48553800-48555600	Enhancers	GM12878-XiMat	blood
10	chr12:48554000-48555200	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:48554000-48555600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:48554000-48555600	Enhancers	Fetal Heart	heart
13	chr12:48554000-48555800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:48554200-48555400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:48554400-48555000	Enhancers	Brain Anterior Caudate	brain
16	chr12:48554600-48555000	Enhancers	Fetal Lung	lung
17	chr12:48554600-48555000	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:48554600-48555200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:48554600-48555400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:48554600-48556000	Enhancers	K562	blood
21	chr12:48554600-48556600	Enhancers	Psoas Muscle	Psoas
22	chr12:48554600-48557000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:48554800-48555000	Enhancers	Brain Angular Gyrus	brain
24	chr12:48554800-48555600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:48554800-48558200	Weak transcription	Brain Hippocampus Middle	brain

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