Variant report

Variant	rs180921887
Chromosome Location	chr12:106642855-106642856
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:106641572-106644424	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:106642680-106643257	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:106640579-106644067	GM19193	blood:	n/a	n/a
4	RCOR1	chr12:106642831-106643053	HepG2	liver:	n/a	n/a
5	STAT3	chr12:106642719-106643018	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3A	chr12:106641582-106643087	H1-hESC	embryonic stem cell:	n/a	chr12:106641703-106641716 chr12:106641733-106641742
7	POLR2A	chr12:106641025-106644169	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:106641115-106643709	MCF10A-Er-Src	breast:	n/a	n/a
9	CHD1	chr12:106639633-106643296	IMR90	lung:	n/a	chr12:106641025-106641035
10	POLR2A	chr12:106641063-106643175	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:106641448-106643261	HUVEC	blood vessel:	n/a	n/a
12	FOS	chr12:106642785-106643048	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr12:106640869-106644014	GM18951	blood:	n/a	n/a
14	RELA	chr12:106642205-106643879	GM15510	blood:	n/a	n/a
15	CEBPB	chr12:106642837-106643208	IMR90	lung:	n/a	n/a
16	POLR2A	chr12:106639680-106643402	IMR90	lung:	n/a	n/a
17	MAZ	chr12:106639576-106643317	IMR90	lung:	n/a	chr12:106641917-106641927
18	POLR2A	chr12:106641586-106643325	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:106642213-106643167	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr12:106640930-106644009	GM12892	blood:	n/a	n/a
21	STAT3	chr12:106642407-106643133	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:106640929-106644016	GM15510	blood:	n/a	n/a
23	FOS	chr12:106642653-106643078	MCF10A-Er-Src	breast:	n/a	chr12:106642719-106642730
24	POLR2A	chr12:106640778-106643389	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr12:106641501-106643421	SK-N-MC	brain:	n/a	n/a
26	RUNX3	chr12:106642245-106642921	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:106640974-106643979	GM19099	blood:	n/a	n/a
28	RELA	chr12:106642244-106643934	GM19099	blood:	n/a	n/a
29	POLR2A	chr12:106641418-106643261	HUVEC	blood vessel:	n/a	n/a
30	RELA	chr12:106642243-106643879	GM10847	blood:	n/a	n/a
31	MXI1	chr12:106640491-106643212	SK-N-SH	brain:	n/a	n/a
32	MXI1	chr12:106640532-106643318	IMR90	lung:	n/a	n/a
33	FOS	chr12:106642757-106643203	HUVEC	blood vessel:	n/a	chr12:106643103-106643111

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
2	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:
3	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:
4	chr12:106641882..106643930-chr12:106685440..106687264,2	MCF-7	breast:
5	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
6	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
7	chr12:106640861..106643735-chr12:106674267..106678317,3	MCF-7	breast:
8	chr12:106640559..106643459-chr12:107485293..107487296,2	K562	blood:
9	chr12:106642113..106643655-chr12:106665361..106667243,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258355	TF binding region
CKAP4	TF binding region
ENSG00000238609	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000257548	Chromatin interaction
ENSG00000008405	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv1799917	chr12:106637876-106649988	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1834434	chr12:106637876-106649988	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3403093	chr12:106639622-106643920	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3491368	chr12:106640422-106643020	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3491369	chr12:106640422-106643020	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3372615	chr12:106640922-106642870	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106639800-106643000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:106640000-106643000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:106640000-106643000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:106640200-106643000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:106640400-106643000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:106640400-106643000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:106640600-106643000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:106640600-106643000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:106640800-106643000	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:106641000-106643000	Active TSS	Adipose Nuclei	Adipose
11	chr12:106641000-106643000	Active TSS	Brain Cingulate Gyrus	brain
12	chr12:106641200-106643000	Active TSS	Primary T cells from cord blood	blood
13	chr12:106642000-106643000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:106642000-106643000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:106642000-106644000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr12:106642200-106643000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr12:106642200-106643000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr12:106642200-106643000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:106642200-106643000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr12:106642200-106643000	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr12:106642200-106643200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr12:106642200-106643200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr12:106642200-106643200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:106642200-106643600	Flanking Active TSS	GM12878-XiMat	blood
25	chr12:106642200-106644200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:106642400-106643000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr12:106642400-106643000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:106642400-106643000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:106642400-106643000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:106642400-106643000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:106642400-106643000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr12:106642400-106643000	Weak transcription	Gastric	stomach
33	chr12:106642400-106643000	Weak transcription	Spleen	Spleen
34	chr12:106642400-106643000	Flanking Active TSS	A549	lung
35	chr12:106642400-106643000	Flanking Active TSS	Osteobl	bone
36	chr12:106642400-106643200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:106642400-106643200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:106642400-106643200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:106642400-106643200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr12:106642400-106643200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr12:106642400-106643200	Enhancers	Lung	lung
42	chr12:106642400-106643200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:106642400-106643200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr12:106642400-106643200	Flanking Active TSS	HUVEC	blood vessel
45	chr12:106642400-106643200	Flanking Active TSS	NH-A	brain
46	chr12:106642400-106643400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:106642400-106643400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:106642400-106644200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr12:106642600-106643000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:106642600-106643000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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