Variant report

Variant	rs73033493
Chromosome Location	chr12:4221837-4221838
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	IRF4	chr12:4221362-4221913	GM12878	blood:	n/a	n/a
2	NFIC	chr12:4221245-4222064	GM12878	blood:	n/a	n/a
3	MTA3	chr12:4221329-4221953	GM12878	blood:	n/a	n/a
4	FOXM1	chr12:4221318-4221914	GM12878	blood:	n/a	n/a
5	RELA	chr12:4221478-4221854	GM19099	blood:	n/a	n/a
6	EP300	chr12:4221447-4221884	GM12878	blood:	n/a	n/a
7	EP300	chr12:4221340-4221877	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:4221368-4221873	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:4221370-4221892	GM12892	blood:	n/a	n/a
10	TBP	chr12:4221549-4222278	GM12878	blood:	n/a	n/a
11	ATF2	chr12:4221295-4221961	GM12878	blood:	n/a	n/a
12	FOXM1	chr12:4221436-4221871	GM12878	blood:	n/a	n/a
13	NFIC	chr12:4221380-4221939	GM12878	blood:	n/a	n/a
14	RELA	chr12:4221385-4221866	GM19193	blood:	n/a	n/a
15	RUNX3	chr12:4221256-4221986	GM12878	blood:	n/a	n/a
16	IKZF1	chr12:4221300-4221978	GM12878	blood:	n/a	n/a
17	RELA	chr12:4221373-4221885	GM12878	blood:	n/a	n/a
18	ATF2	chr12:4221395-4221900	GM12878	blood:	n/a	n/a
19	BCL11A	chr12:4221369-4221871	GM12878	blood:	n/a	n/a
20	NFATC1	chr12:4221319-4221885	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr12:4221468-4221862	GM12878	blood:	n/a	n/a
22	BATF	chr12:4221350-4221917	GM12878	blood:	n/a	chr12:4221638-4221649
23	SP1	chr12:4221421-4221864	GM12878	blood:	n/a	n/a
24	NFATC1	chr12:4221367-4221944	GM12878	blood:	n/a	n/a
25	CREB1	chr12:4221421-4221926	GM12878	blood:	n/a	n/a
26	PML	chr12:4221327-4222201	GM12878	blood:	n/a	n/a
27	RCOR1	chr12:4221569-4221838	GM12878	blood:	n/a	n/a
28	BATF	chr12:4221378-4221880	GM12878	blood:	n/a	chr12:4221638-4221649
29	BCLAF1	chr12:4221325-4221930	GM12878	blood:	n/a	n/a
30	RUNX3	chr12:4221312-4221874	GM12878	blood:	n/a	n/a
31	CREB1	chr12:4221274-4222064	GM12878	blood:	n/a	n/a
32	EP300	chr12:4221492-4222271	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000242444	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56244123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4216000-4224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:4216600-4224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:4216800-4225000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:4217000-4222200	Weak transcription	Fetal Thymus	thymus
5	chr12:4217000-4223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:4217000-4224000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:4219200-4222200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:4219800-4228000	Enhancers	Fetal Muscle Leg	muscle
9	chr12:4220400-4222000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:4221000-4222200	Weak transcription	Fetal Lung	lung
11	chr12:4221400-4222400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:4221400-4223000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:4221400-4223200	Enhancers	NHEK	skin
14	chr12:4221400-4223400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:4221400-4223400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:4221400-4223400	Enhancers	HMEC	breast
17	chr12:4221600-4223200	Enhancers	HSMMtube	muscle
18	chr12:4221800-4222200	Flanking Active TSS	GM12878-XiMat	blood
19	chr12:4221800-4222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:4221800-4223200	Enhancers	HSMM	muscle

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