Variant report

Variant	rs147783673
Chromosome Location	chr12:106642409-106642410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:106642188-106642614	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:106641572-106644424	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:106640883-106642523	A549	lung:	n/a	n/a
4	CTCF	chr12:106642380-106642530	GM12874	blood:	n/a	n/a
5	CTCF	chr12:106642300-106642450	HBMEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:106640579-106644067	GM19193	blood:	n/a	n/a
7	MAX	chr12:106642265-106642725	SK-N-SH	brain:	n/a	n/a
8	YY1	chr12:106642252-106642554	A549	lung:	n/a	n/a
9	MAX	chr12:106640448-106642756	A549	lung:	n/a	chr12:106641917-106641927
10	POLR2A	chr12:106641576-106642535	HCT-116	colon:	n/a	n/a
11	YY1	chr12:106642232-106642601	SK-N-SH_RA	brain:	n/a	n/a
12	YY1	chr12:106641319-106642496	HepG2	liver:	n/a	chr12:106641916-106641925 chr12:106642163-106642174 chr12:106642157-106642171
13	CTCF	chr12:106642280-106642430	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr12:106640937-106642420	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:106640497-106642601	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr12:106641582-106643087	H1-hESC	embryonic stem cell:	n/a	chr12:106641703-106641716 chr12:106641733-106641742
17	MAX	chr12:106640804-106642665	HepG2	liver:	n/a	chr12:106641917-106641927
18	STAT3	chr12:106642287-106642487	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr12:106641025-106644169	GM12878	blood:	n/a	n/a
20	CTCF	chr12:106642340-106642490	AG09319	gingival:	n/a	n/a
21	TCF12	chr12:106641518-106642445	ECC-1	luminal epithelium:	n/a	n/a
22	TAF1	chr12:106641977-106642600	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:106642314-106642416	MCF-7	breast:	n/a	n/a
24	POLR2A	chr12:106641115-106643709	MCF10A-Er-Src	breast:	n/a	n/a
25	BCL3	chr12:106642047-106642646	A549	lung:	n/a	chr12:106642156-106642169 chr12:106642135-106642144
26	POLR2A	chr12:106640689-106642638	ProgFib	skin:	n/a	n/a
27	EBF1	chr12:106642235-106642457	GM12878	blood:	n/a	n/a
28	CHD1	chr12:106639633-106643296	IMR90	lung:	n/a	chr12:106641025-106641035
29	POLR2A	chr12:106641552-106642556	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:106641063-106643175	HUVEC	blood vessel:	n/a	n/a
31	MAZ	chr12:106642167-106642431	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:106641448-106643261	HUVEC	blood vessel:	n/a	n/a
33	MAZ	chr12:106641645-106642553	HepG2	liver:	n/a	chr12:106641917-106641927
34	YY1	chr12:106642251-106642612	SK-N-SH_RA	brain:	n/a	n/a
35	POLR2A	chr12:106640980-106642816	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:106640869-106644014	GM18951	blood:	n/a	n/a
37	POLR2A	chr12:106642273-106642598	GM12878	blood:	n/a	n/a
38	RELA	chr12:106642205-106643879	GM15510	blood:	n/a	n/a
39	HEY1	chr12:106641511-106642529	HepG2	liver:	n/a	n/a
40	YY1	chr12:106642284-106642602	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:106642270-106642518	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr12:106641038-106642453	A549	lung:	n/a	n/a
43	POLR2A	chr12:106639680-106643402	IMR90	lung:	n/a	n/a
44	MAZ	chr12:106639576-106643317	IMR90	lung:	n/a	chr12:106641917-106641927
45	MXI1	chr12:106641564-106642771	HepG2	liver:	n/a	n/a
46	ZBTB7A	chr12:106641682-106642617	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr12:106641586-106643325	HepG2	liver:	n/a	n/a
48	MAX	chr12:106641531-106642689	SK-N-SH	brain:	n/a	chr12:106641917-106641927
49	TBP	chr12:106642129-106642583	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF143	chr12:106642333-106642666	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106642360-106642410	LNCaP	prostate:	n/a
2	chr12:106642360-106642410	NB4	blood:	n/a
3	chr12:106642360-106642410	HNPCEpiC	eye:	n/a
4	chr12:106642360-106642410	MCF10A-Er-Src	breast:	n/a
5	chr12:106642360-106642410	Hepatocyte	liver:	n/a
6	chr12:106642360-106642410	RPTEC	kidney:	n/a
7	chr12:106642360-106642410	BE2_C	brain:	n/a
8	chr12:106642360-106642410	HAEpiC	amniotic membrane:	n/a
9	chr12:106642360-106642410	AG09309	skin:	n/a
10	chr12:106642360-106642410	SK-N-MC	brain:	n/a
11	chr12:106642360-106642410	PrEC	prostate:	n/a
12	chr12:106642360-106642410	HepG2	liver:	n/a
13	chr12:106642360-106642410	HRCEpiC	kidney:	n/a
14	chr12:106642360-106642410	GM06990	blood:	n/a
15	chr12:106642360-106642410	NH-A	brain:	n/a
16	chr12:106642360-106642410	IMR90	lung:	fetal
17	chr12:106642360-106642410	Hela-S3	cervix:	n/a
18	chr12:106642360-106642410	SK-N-SH_RA	brain:	n/a
19	chr12:106642360-106642410	Jurkat	blood:	n/a
20	chr12:106642360-106642410	HRPEpiC	eye:	n/a
21	chr12:106642360-106642410	HCPEpiC	choroid plexus:	n/a
22	chr12:106642360-106642410	H1-hESC	embryonic stem cell:	embryo
23	chr12:106642360-106642410	A549	lung:	n/a
24	chr12:106642360-106642410	AG10803	skin:	n/a
25	chr12:106642360-106642410	HCT-116	colon:	n/a
26	chr12:106642360-106642410	HRE	kidney:	n/a
27	chr12:106642360-106642410	U87	brain:	n/a
28	chr12:106642360-106642410	T-47D	breast:	n/a
29	chr12:106642360-106642410	GM12878	blood:	n/a
30	chr12:106642360-106642410	ProgFib	skin:	n/a
31	chr12:106642360-106642410	PFSK-1	brain:	n/a
32	chr12:106642360-106642410	HL-60	blood:	n/a
33	chr12:106642360-106642410	HEK293	kidney:	embryo
34	chr12:106642360-106642410	MCF-7	breast:	n/a
35	chr12:106642360-106642410	AG04449	skin:	fetal
36	chr12:106642360-106642410	NHBE	bronchial:	n/a
37	chr12:106642360-106642410	Caco-2	colon:	n/a
38	chr12:106642360-106642410	GM19239	blood:	n/a
39	chr12:106642360-106642410	CMK	blood:	n/a
40	chr12:106642360-106642410	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:106642360-106642410	HMEC	breast:	n/a
42	chr12:106642360-106642410	PANC-1	pancreas:	n/a
43	chr12:106642360-106642410	HUVEC	blood vessel:	n/a
44	chr12:106642360-106642410	SK-N-SH	brain:	n/a
45	chr12:106642360-106642410	HCF	heart:	n/a
46	chr12:106642360-106642410	NHDF-neo	bronchial:	n/a
47	chr12:106642360-106642410	GM12892	blood:	n/a
48	chr12:106642360-106642410	AG09319	gingival:	n/a
49	chr12:106642360-106642410	GM12891	blood:	n/a
50	chr12:106642360-106642410	SKMC	muscle:	n/a

(count:10 , 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	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
10	chr12:106642113..106643655-chr12:106665361..106667243,2	MCF-7	breast:

No data

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000258355	TF binding region
ENSG00000258355	CpG island
CKAP4	CpG island
ENSG00000013503	Chromatin interaction
ENSG00000238609	Chromatin interaction
ENSG00000008405	Chromatin interaction
ENSG00000074590	Chromatin interaction
ENSG00000257548	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000136026	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3377942	chr12:106640247-106642795	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106639200-106642800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:106639400-106642600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:106639600-106642600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:106639800-106642600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:106639800-106643000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:106640000-106642600	Active TSS	Left Ventricle	heart
7	chr12:106640000-106642600	Active TSS	NHDF-Ad	bronchial
8	chr12:106640000-106642800	Active TSS	Brain Anterior Caudate	brain
9	chr12:106640000-106643000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:106640000-106643000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:106640200-106642600	Active TSS	Ovary	ovary
12	chr12:106640200-106642600	Active TSS	Placenta Amnion	Placenta Amnion
13	chr12:106640200-106642600	Active TSS	HMEC	breast
14	chr12:106640200-106642800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:106640200-106642800	Active TSS	Right Ventricle	heart
16	chr12:106640200-106643000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:106640400-106642600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:106640400-106642600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:106640400-106642600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:106640400-106642800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:106640400-106642800	Active TSS	Fetal Brain Female	brain
22	chr12:106640400-106643000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:106640400-106643000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:106640600-106642600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:106640600-106642800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:106640600-106642800	Active TSS	Aorta	Aorta
27	chr12:106640600-106642800	Active TSS	Brain Angular Gyrus	brain
28	chr12:106640600-106643000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:106640600-106643000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:106640800-106642600	Active TSS	Brain Substantia Nigra	brain
31	chr12:106640800-106642600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr12:106640800-106642800	Active TSS	Colon Smooth Muscle	Colon
33	chr12:106640800-106642800	Active TSS	Psoas Muscle	Psoas
34	chr12:106640800-106643000	Active TSS	Rectal Smooth Muscle	rectum
35	chr12:106641000-106642600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:106641000-106642600	Active TSS	Liver	Liver
37	chr12:106641000-106642600	Active TSS	Brain Hippocampus Middle	brain
38	chr12:106641000-106642600	Active TSS	Fetal Muscle Leg	muscle
39	chr12:106641000-106642600	Active TSS	Pancreas	Pancrea
40	chr12:106641000-106642600	Active TSS	Right Atrium	heart
41	chr12:106641000-106643000	Active TSS	Adipose Nuclei	Adipose
42	chr12:106641000-106643000	Active TSS	Brain Cingulate Gyrus	brain
43	chr12:106641200-106642800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:106641200-106643000	Active TSS	Primary T cells from cord blood	blood
45	chr12:106642000-106642600	Flanking Bivalent TSS/Enh	Dnd41	blood
46	chr12:106642000-106642600	Bivalent/Poised TSS	HepG2	liver
47	chr12:106642000-106642800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr12:106642000-106643000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:106642000-106643000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:106642000-106644000	Flanking Active TSS	Primary B cells from cord blood	blood

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