Variant report

Variant	rs12307242
Chromosome Location	chr12:45594386-45594387
allele	G/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	CEBPB	chr12:45594313-45594469	HepG2	liver:	n/a	chr12:45594418-45594429
2	STAT3	chr12:45594294-45594518	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr12:45594236-45594512	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr12:45594356-45594500	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr12:45594244-45594589	Hela-S3	cervix:	n/a	chr12:45594418-45594429
6	MYC	chr12:45593995-45594786	NB4	blood:	n/a	chr12:45594691-45594700
7	FOS	chr12:45594237-45594539	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr12:45594308-45594511	MCF-7	breast:	n/a	chr12:45594418-45594429
9	ARID3A	chr12:45594264-45594579	HepG2	liver:	n/a	n/a
10	MYC	chr12:45593992-45594436	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr12:45594209-45594603	HepG2	liver:	n/a	chr12:45594418-45594429
12	CEBPB	chr12:45594245-45594585	K562	blood:	n/a	chr12:45594418-45594429
13	CEBPB	chr12:45594233-45594597	A549	lung:	n/a	chr12:45594418-45594429
14	CEBPB	chr12:45594232-45594598	IMR90	lung:	n/a	chr12:45594418-45594429
15	FOS	chr12:45594236-45594518	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr12:45594192-45594480	HepG2	liver:	n/a	chr12:45594418-45594429
17	FOS	chr12:45594299-45594505	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr12:45594251-45594548	HepG2	liver:	n/a	chr12:45594418-45594429

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257738	TF binding region
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10437940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10880758	0.80[AFR][1000 genomes]
rs11182937	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302842	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311471	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322294	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45571000-45594600	Weak transcription	Pancreas	Pancrea
2	chr12:45573400-45594600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:45578600-45594600	Weak transcription	Psoas Muscle	Psoas
4	chr12:45579400-45599200	Weak transcription	Primary B cells from cord blood	blood
5	chr12:45584800-45594400	Weak transcription	Aorta	Aorta
6	chr12:45586600-45594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:45586600-45602400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:45587200-45594600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:45592200-45599400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:45593000-45594800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:45593000-45595200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:45593000-45595400	Enhancers	Fetal Intestine Large	intestine
13	chr12:45593000-45595600	Enhancers	HepG2	liver
14	chr12:45593200-45595200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr12:45593400-45594800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:45593400-45595000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:45593400-45600000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:45593600-45594400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:45593600-45594400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:45593600-45595000	Flanking Active TSS	Dnd41	blood
21	chr12:45593600-45595200	Enhancers	Fetal Thymus	thymus
22	chr12:45593600-45595400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:45593800-45594800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:45593800-45594800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:45593800-45594800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:45593800-45594800	Active TSS	Stomach Smooth Muscle	stomach
27	chr12:45593800-45595000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:45593800-45595000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:45593800-45595200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:45593800-45595200	Flanking Active TSS	Liver	Liver
31	chr12:45593800-45595200	Enhancers	Small Intestine	intestine
32	chr12:45593800-45595800	Enhancers	Fetal Intestine Small	intestine
33	chr12:45594000-45594400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:45594000-45594600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:45594000-45594800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:45594000-45594800	Enhancers	Fetal Lung	lung
37	chr12:45594000-45594800	Enhancers	Placenta	Placenta
38	chr12:45594000-45594800	Enhancers	NHLF	lung
39	chr12:45594000-45595200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:45594000-45595200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:45594200-45594400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:45594200-45594400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:45594200-45594600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:45594200-45594600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:45594200-45594600	Flanking Active TSS	Thymus	Thymus
46	chr12:45594200-45594800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:45594200-45594800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr12:45594200-45594800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr12:45594200-45594800	Enhancers	GM12878-XiMat	blood
50	chr12:45594200-45595000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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