Variant report

Variant	rs542673479
Chromosome Location	chr12:118574011-118574012
allele	C/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	CTCF	chr12:118573730-118574113	K562	blood:	n/a	n/a
2	RFX5	chr12:118573647-118574032	GM12878	blood:	n/a	chr12:118573817-118573826
3	SIN3A	chr12:118573423-118574803	H1-hESC	embryonic stem cell:	n/a	chr12:118573865-118573876
4	E2F6	chr12:118573583-118574737	K562	blood:	n/a	chr12:118573816-118573825 chr12:118574158-118574167
5	POLR2A	chr12:118573574-118574198	GM12891	blood:	n/a	n/a
6	ZBTB33	chr12:118573572-118574389	SK-N-SH	brain:	n/a	chr12:118573782-118573797
7	NFYB	chr12:118573614-118574034	Hela-S3	cervix:	n/a	chr12:118573814-118573829 chr12:118573811-118573826 chr12:118573814-118573829 chr12:118573814-118573828 chr12:118573814-118573827 chr12:118573813-118573825
8	POLR2A	chr12:118573560-118574187	HepG2	liver:	n/a	n/a
9	RCOR1	chr12:118573433-118574136	Hela-S3	cervix:	n/a	n/a
10	POU2F2	chr12:118573892-118574085	GM12878	blood:	n/a	n/a
11	CHD1	chr12:118573637-118575009	GM12878	blood:	n/a	n/a
12	MAX	chr12:118573520-118574450	A549	lung:	n/a	chr12:118573848-118573857
13	MYC	chr12:118573411-118574731	MCF10A-Er-Src	breast:	n/a	chr12:118573848-118573857
14	MYC	chr12:118573565-118574760	K562	blood:	n/a	chr12:118573848-118573857
15	BRCA1	chr12:118573697-118574078	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:118573307-118574273	PFSK-1	brain:	n/a	n/a
17	BHLHE40	chr12:118573428-118574104	HepG2	liver:	n/a	chr12:118573980-118573996
18	ZMIZ1	chr12:118573816-118574180	K562	blood:	n/a	n/a
19	TAF1	chr12:118573398-118574633	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr12:118573507-118574199	PANC-1	pancreas:	n/a	n/a
21	CTCF	chr12:118573947-118574012	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:118573606-118574108	HepG2	liver:	n/a	n/a
23	E2F6	chr12:118573634-118574162	A549	lung:	n/a	chr12:118573816-118573825
24	POLR2A	chr12:118573553-118574708	NB4	blood:	n/a	n/a
25	MAX	chr12:118573536-118574777	GM12878	blood:	n/a	chr12:118573848-118573857
26	CTCF	chr12:118573756-118574121	GM12878	blood:	n/a	n/a
27	RAD21	chr12:118573892-118574097	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr12:118573667-118574159	T-47D	breast:	n/a	chr12:118573755-118573771
29	POLR2A	chr12:118573494-118574739	GM12891	blood:	n/a	n/a
30	TAF7	chr12:118573487-118574162	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:118573396-118575412	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:118573583-118574156	GM12891	blood:	n/a	n/a
33	CEBPD	chr12:118573657-118574099	HepG2	liver:	n/a	n/a
34	MAX	chr12:118573618-118574142	HUVEC	blood vessel:	n/a	chr12:118573848-118573857
35	TEAD4	chr12:118573790-118574139	H1-hESC	embryonic stem cell:	n/a	n/a
36	PML	chr12:118573426-118574871	GM12878	blood:	n/a	n/a
37	TAL1	chr12:118573908-118574142	K562	blood:	n/a	n/a
38	POLR2A	chr12:118573521-118574932	GM12878	blood:	n/a	n/a
39	TAF1	chr12:118573584-118574161	H1-neurons	neurons:	n/a	n/a
40	RCOR1	chr12:118573419-118574082	K562	blood:	n/a	n/a
41	POLR2A	chr12:118573455-118574333	HL-60	blood:	n/a	n/a
42	JUND	chr12:118573620-118574079	HepG2	liver:	n/a	chr12:118573818-118573827
43	TAF1	chr12:118573593-118574341	HepG2	liver:	n/a	n/a
44	SP1	chr12:118573328-118574664	HCT-116	colon:	n/a	chr12:118573815-118573836
45	MYC	chr12:118573721-118574210	GM12878	blood:	n/a	chr12:118573848-118573857
46	MTA3	chr12:118573425-118574892	GM12878	blood:	n/a	n/a
47	HDAC2	chr12:118573606-118574088	K562	blood:	n/a	chr12:118573622-118573636
48	BRCA1	chr12:118573519-118574131	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:118573459-118574221	PANC-1	pancreas:	n/a	n/a
50	RAD21	chr12:118573852-118574019	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118572886..118574851-chr17:57922727..57925338,2	MCF-7	breast:
2	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
3	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
4	chr12:118573153..118575288-chr12:118813964..118815499,2	K562	blood:
5	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
6	chr12:118499217..118500774-chr12:118572851..118574591,2	MCF-7	breast:
7	chr12:118573812..118576177-chr12:118596570..118599987,3	K562	blood:
8	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
9	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
10	chr12:118557596..118560350-chr12:118572704..118574934,3	MCF-7	breast:
11	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
12	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:
13	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

Variant related genes	Relation type
PEBP1	TF binding region
VSIG10	TF binding region
ENSG00000270482	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000111707	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv3406515	chr12:118572594-118575442	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118572600-118574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:118572600-118575400	Active TSS	A549	lung
4	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:118572800-118574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:118572800-118574800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:118572800-118574800	Active TSS	Duodenum Mucosa	Duodenum
8	chr12:118572800-118574800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:118572800-118575000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:118572800-118575000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:118572800-118575000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:118572800-118575000	Active TSS	Brain Anterior Caudate	brain
13	chr12:118572800-118575000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:118572800-118575000	Active TSS	Rectal Smooth Muscle	rectum
15	chr12:118572800-118575400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:118572800-118575400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:118572800-118575400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:118572800-118575400	Active TSS	HSMM	muscle
19	chr12:118572800-118575400	Active TSS	NHDF-Ad	bronchial
20	chr12:118572800-118575400	Active TSS	NHLF	lung
21	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:118573000-118574800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:118573000-118574800	Active TSS	Fetal Lung	lung
24	chr12:118573000-118574800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:118573000-118574800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:118573000-118574800	Active TSS	Hela-S3	cervix
27	chr12:118573000-118574800	Active TSS	NHEK	skin
28	chr12:118573000-118575000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:118573000-118575000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:118573000-118575000	Active TSS	GM12878-XiMat	blood
31	chr12:118573000-118575200	Active TSS	Ovary	ovary
32	chr12:118573000-118575400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr12:118573000-118575400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr12:118573200-118574600	Active TSS	Fetal Thymus	thymus
35	chr12:118573200-118574600	Active TSS	Dnd41	blood
36	chr12:118573200-118574800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:118573200-118574800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:118573200-118574800	Active TSS	Colon Smooth Muscle	Colon
39	chr12:118573200-118574800	Active TSS	Fetal Stomach	stomach
40	chr12:118573200-118574800	Active TSS	Right Ventricle	heart
41	chr12:118573200-118575000	Active TSS	Brain Angular Gyrus	brain
42	chr12:118573200-118575000	Active TSS	Fetal Muscle Trunk	muscle
43	chr12:118573200-118575000	Active TSS	HMEC	breast
44	chr12:118573200-118575200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:118573200-118575200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:118573200-118575200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:118573200-118575200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:118573200-118575200	Active TSS	Brain Hippocampus Middle	brain
49	chr12:118573200-118575200	Active TSS	Fetal Intestine Large	intestine
50	chr12:118573200-118575200	Active TSS	Fetal Kidney	kidney

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