Variant report

Variant	rs557860526
Chromosome Location	chr12:117319506-117319507
allele	A/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	JUND	chr12:117319480-117319650	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr12:117319150-117320074	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:117318770-117319596	H1-neurons	neurons:	n/a	n/a
4	CCNT2	chr12:117318736-117319509	K562	blood:	n/a	chr12:117319333-117319342 chr12:117319297-117319306
5	POLR2A	chr12:117318420-117320691	H1-neurons	neurons:	n/a	n/a
6	SMARCB1	chr12:117318446-117319520	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr12:117319360-117319556	K562	blood:	n/a	n/a
8	ZNF143	chr12:117319409-117319544	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
10	CTBP2	chr12:117318637-117319669	H1-hESC	embryonic stem cell:	n/a	n/a
11	HDAC2	chr12:117319254-117319859	MCF-7	breast:	n/a	n/a
12	CHD2	chr12:117318747-117319521	Hela-S3	cervix:	n/a	chr12:117319435-117319445 chr12:117319298-117319308
13	MAX	chr12:117318530-117319650	A549	lung:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
14	TCF12	chr12:117319044-117319538	ECC-1	luminal epithelium:	n/a	chr12:117319345-117319355
15	MAX	chr12:117318454-117319697	HCT-116	colon:	n/a	chr12:117319314-117319323 chr12:117319291-117319301
16	ZBTB7A	chr12:117319157-117320101	ECC-1	luminal epithelium:	n/a	n/a
17	ZBTB7A	chr12:117319285-117319673	K562	blood:	n/a	n/a
18	SIN3A	chr12:117318370-117320271	H1-hESC	embryonic stem cell:	n/a	chr12:117319818-117319827 chr12:117319782-117319791
19	TCF7L2	chr12:117318747-117319559	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
HRK	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3338350	chr12:117316869-117321167	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3341718	chr12:117318119-117320417	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3357378	chr12:117318194-117320742	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:117316600-117320000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:117316800-117319600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr12:117316800-117320200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:117317000-117320000	Bivalent Enhancer	Placenta	Placenta
11	chr12:117317400-117319600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:117317600-117320200	Flanking Bivalent TSS/Enh	Thymus	Thymus
13	chr12:117317600-117320400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr12:117317800-117320400	Bivalent Enhancer	Liver	Liver
15	chr12:117318000-117319600	Active TSS	Aorta	Aorta
16	chr12:117318000-117319800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:117318200-117319600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:117318200-117319800	Bivalent Enhancer	HUVEC	blood vessel
19	chr12:117318200-117320000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:117318400-117319600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr12:117318400-117319600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:117318400-117319600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:117318400-117320000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:117318400-117320000	Bivalent Enhancer	Spleen	Spleen
25	chr12:117318600-117319600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:117318600-117319600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:117318600-117319600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:117318600-117319600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:117318600-117319600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:117318600-117319600	Bivalent/Poised TSS	Ovary	ovary
31	chr12:117318600-117319600	Active TSS	Right Atrium	heart
32	chr12:117318600-117319600	Bivalent/Poised TSS	A549	lung
33	chr12:117318600-117319600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr12:117318600-117319800	Bivalent/Poised TSS	K562	blood
35	chr12:117318800-117319600	Active TSS	Right Ventricle	heart
36	chr12:117318800-117320600	Bivalent Enhancer	Fetal Brain Male	brain
37	chr12:117318800-117320800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:117319000-117319800	Bivalent/Poised TSS	HSMMtube	muscle
39	chr12:117319200-117319600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:117319200-117319800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr12:117319200-117319800	Bivalent Enhancer	Esophagus	oesophagus
42	chr12:117319200-117320000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:117319200-117320000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
44	chr12:117319200-117320000	Bivalent Enhancer	HMEC	breast
45	chr12:117319200-117320200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr12:117319200-117320200	Bivalent Enhancer	Left Ventricle	heart
47	chr12:117319200-117320400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr12:117319400-117319600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:117319400-117319600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:117319400-117319600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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