Variant report

Variant	rs550885662
Chromosome Location	chr12:106642253-106642254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 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	TAF1	chr12:106641556-106642260	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:106640579-106644067	GM19193	blood:	n/a	n/a
6	YY1	chr12:106642252-106642554	A549	lung:	n/a	n/a
7	MAX	chr12:106640448-106642756	A549	lung:	n/a	chr12:106641917-106641927
8	POLR2A	chr12:106641576-106642535	HCT-116	colon:	n/a	n/a
9	YY1	chr12:106642232-106642601	SK-N-SH_RA	brain:	n/a	n/a
10	YY1	chr12:106641319-106642496	HepG2	liver:	n/a	chr12:106641916-106641925 chr12:106642163-106642174 chr12:106642157-106642171
11	POLR2A	chr12:106640937-106642420	MCF-7	breast:	n/a	n/a
12	POLR2A	chr12:106640497-106642601	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr12:106641582-106643087	H1-hESC	embryonic stem cell:	n/a	chr12:106641703-106641716 chr12:106641733-106641742
14	MAX	chr12:106640804-106642665	HepG2	liver:	n/a	chr12:106641917-106641927
15	POLR2A	chr12:106641167-106642334	HEK293	kidney:	n/a	n/a
16	POLR2A	chr12:106641025-106644169	GM12878	blood:	n/a	n/a
17	TCF12	chr12:106641518-106642445	ECC-1	luminal epithelium:	n/a	n/a
18	TAF1	chr12:106641977-106642600	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:106642220-106642370	SK-N-SH_RA	brain:	n/a	n/a
20	POLR2A	chr12:106641115-106643709	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:106642056-106642351	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr12:106642047-106642646	A549	lung:	n/a	chr12:106642156-106642169 chr12:106642135-106642144
23	POLR2A	chr12:106640689-106642638	ProgFib	skin:	n/a	n/a
24	EBF1	chr12:106642235-106642457	GM12878	blood:	n/a	n/a
25	CHD1	chr12:106639633-106643296	IMR90	lung:	n/a	chr12:106641025-106641035
26	POLR2A	chr12:106641552-106642556	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:106641063-106643175	HUVEC	blood vessel:	n/a	n/a
28	MAZ	chr12:106642167-106642431	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:106641448-106643261	HUVEC	blood vessel:	n/a	n/a
30	MAZ	chr12:106641645-106642553	HepG2	liver:	n/a	chr12:106641917-106641927
31	POLR2A	chr12:106641122-106642276	A549	lung:	n/a	n/a
32	ZBTB7A	chr12:106641813-106642369	HepG2	liver:	n/a	n/a
33	YY1	chr12:106642251-106642612	SK-N-SH_RA	brain:	n/a	n/a
34	POLR2A	chr12:106640980-106642816	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:106640869-106644014	GM18951	blood:	n/a	n/a
36	RELA	chr12:106642205-106643879	GM15510	blood:	n/a	n/a
37	HEY1	chr12:106641511-106642529	HepG2	liver:	n/a	n/a
38	CTCF	chr12:106642200-106642350	AG04449	skin:	n/a	n/a
39	POLR2A	chr12:106641038-106642453	A549	lung:	n/a	n/a
40	POLR2A	chr12:106639680-106643402	IMR90	lung:	n/a	n/a
41	MAZ	chr12:106639576-106643317	IMR90	lung:	n/a	chr12:106641917-106641927
42	MXI1	chr12:106641564-106642771	HepG2	liver:	n/a	n/a
43	ZBTB7A	chr12:106641682-106642617	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr12:106641586-106643325	HepG2	liver:	n/a	n/a
45	MAX	chr12:106641531-106642689	SK-N-SH	brain:	n/a	chr12:106641917-106641927
46	TBP	chr12:106642129-106642583	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr12:106640359-106642736	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr12:106641037-106642448	H1-neurons	neurons:	n/a	n/a
49	SIN3AK20	chr12:106642032-106642652	SK-N-SH	brain:	n/a	n/a
50	SMARCB1	chr12:106640788-106642656	Hela-S3	cervix:	n/a	n/a

No data

(count:11 , 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:
11	chr12:105500524..105503114-chr12:106640734..106642263,2	MCF-7	breast:

No data

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000258355	TF binding region
ENSG00000257548	Chromatin interaction
ENSG00000238609	Chromatin interaction
ENSG00000008405	Chromatin interaction
ENSG00000074590	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560060	chr12:106637876-106642390	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	esv19887	chr12:106640836-106642276	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	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
10	nsv560065	chr12:106640981-106642390	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv560071	chr12:106641085-106642390	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv560080	chr12:106641298-106642390	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv560086	chr12:106641542-106642390	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv560088	chr12:106641605-106642390	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106639200-106642400	Active TSS	HSMM	muscle
2	chr12:106639200-106642400	Active TSS	NHLF	lung
3	chr12:106639200-106642800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:106639400-106642600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:106639600-106642600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:106639800-106642600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:106639800-106643000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr12:106640000-106642400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:106640000-106642400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr12:106640000-106642400	Active TSS	Esophagus	oesophagus
11	chr12:106640000-106642600	Active TSS	Left Ventricle	heart
12	chr12:106640000-106642600	Active TSS	NHDF-Ad	bronchial
13	chr12:106640000-106642800	Active TSS	Brain Anterior Caudate	brain
14	chr12:106640000-106643000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:106640000-106643000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:106640200-106642400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:106640200-106642400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:106640200-106642400	Active TSS	A549	lung
19	chr12:106640200-106642400	Active TSS	Osteobl	bone
20	chr12:106640200-106642600	Active TSS	Ovary	ovary
21	chr12:106640200-106642600	Active TSS	Placenta Amnion	Placenta Amnion
22	chr12:106640200-106642600	Active TSS	HMEC	breast
23	chr12:106640200-106642800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:106640200-106642800	Active TSS	Right Ventricle	heart
25	chr12:106640200-106643000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:106640400-106642400	Active TSS	Gastric	stomach
27	chr12:106640400-106642400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr12:106640400-106642600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:106640400-106642600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:106640400-106642600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:106640400-106642800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:106640400-106642800	Active TSS	Fetal Brain Female	brain
33	chr12:106640400-106643000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:106640400-106643000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:106640600-106642400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:106640600-106642400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:106640600-106642400	Active TSS	NH-A	brain
38	chr12:106640600-106642600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:106640600-106642800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:106640600-106642800	Active TSS	Aorta	Aorta
41	chr12:106640600-106642800	Active TSS	Brain Angular Gyrus	brain
42	chr12:106640600-106643000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:106640600-106643000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:106640800-106642400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:106640800-106642400	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr12:106640800-106642400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:106640800-106642400	Active TSS	Duodenum Mucosa	Duodenum
48	chr12:106640800-106642400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:106640800-106642400	Active TSS	Fetal Lung	lung
50	chr12:106640800-106642400	Active TSS	Fetal Stomach	stomach

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