Variant report

Variant	rs527887741
Chromosome Location	chr12:118573625-118573626
allele	A/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	POU2F2	chr12:118573625-118573794	GM12878	blood:	n/a	chr12:118573696-118573706
2	SIN3A	chr12:118573423-118574803	H1-hESC	embryonic stem cell:	n/a	chr12:118573865-118573876
3	E2F6	chr12:118573583-118574737	K562	blood:	n/a	chr12:118573816-118573825 chr12:118574158-118574167
4	POLR2A	chr12:118573574-118574198	GM12891	blood:	n/a	n/a
5	ZBTB33	chr12:118573572-118574389	SK-N-SH	brain:	n/a	chr12:118573782-118573797
6	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
7	POLR2A	chr12:118573560-118574187	HepG2	liver:	n/a	n/a
8	RCOR1	chr12:118573433-118574136	Hela-S3	cervix:	n/a	n/a
9	MAX	chr12:118573520-118574450	A549	lung:	n/a	chr12:118573848-118573857
10	MYC	chr12:118573411-118574731	MCF10A-Er-Src	breast:	n/a	chr12:118573848-118573857
11	MYC	chr12:118573565-118574760	K562	blood:	n/a	chr12:118573848-118573857
12	POLR2A	chr12:118573307-118574273	PFSK-1	brain:	n/a	n/a
13	BHLHE40	chr12:118573428-118574104	HepG2	liver:	n/a	chr12:118573980-118573996
14	TAF1	chr12:118573398-118574633	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr12:118573507-118574199	PANC-1	pancreas:	n/a	n/a
16	CTCF	chr12:118573520-118573670	A549	lung:	n/a	n/a
17	POLR2A	chr12:118573606-118574108	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:118573553-118574708	NB4	blood:	n/a	n/a
19	MAX	chr12:118573536-118574777	GM12878	blood:	n/a	chr12:118573848-118573857
20	POLR2A	chr12:118573494-118574739	GM12891	blood:	n/a	n/a
21	TAF7	chr12:118573487-118574162	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:118573396-118575412	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:118573583-118574156	GM12891	blood:	n/a	n/a
24	MAX	chr12:118573618-118574142	HUVEC	blood vessel:	n/a	chr12:118573848-118573857
25	PML	chr12:118573426-118574871	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:118573521-118574932	GM12878	blood:	n/a	n/a
27	TAF1	chr12:118573584-118574161	H1-neurons	neurons:	n/a	n/a
28	RCOR1	chr12:118573419-118574082	K562	blood:	n/a	n/a
29	POLR2A	chr12:118573455-118574333	HL-60	blood:	n/a	n/a
30	JUND	chr12:118573620-118574079	HepG2	liver:	n/a	chr12:118573818-118573827
31	TAF1	chr12:118573593-118574341	HepG2	liver:	n/a	n/a
32	SP1	chr12:118573328-118574664	HCT-116	colon:	n/a	chr12:118573815-118573836
33	MTA3	chr12:118573425-118574892	GM12878	blood:	n/a	n/a
34	HDAC2	chr12:118573606-118574088	K562	blood:	n/a	chr12:118573622-118573636
35	BRCA1	chr12:118573519-118574131	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:118573459-118574221	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr12:118573409-118574858	GM12892	blood:	n/a	n/a
38	USF1	chr12:118573616-118574038	ECC-1	luminal epithelium:	n/a	chr12:118573980-118573996
39	NFIC	chr12:118573501-118574080	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:118573401-118574296	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr12:118573520-118574126	HCT-116	colon:	n/a	n/a
42	JUND	chr12:118573589-118574181	A549	lung:	n/a	chr12:118573818-118573827
43	MAX	chr12:118573330-118574353	HCT-116	colon:	n/a	chr12:118573848-118573857
44	POLR2A	chr12:118573544-118575236	GM19193	blood:	n/a	n/a
45	MYBL2	chr12:118573186-118574031	HepG2	liver:	n/a	n/a
46	ETS1	chr12:118573558-118574099	A549	lung:	n/a	chr12:118573833-118573846
47	HNF4A	chr12:118573611-118574091	HepG2	liver:	n/a	n/a
48	HCFC1	chr12:118573488-118574172	K562	blood:	n/a	n/a
49	YY1	chr12:118573546-118573981	SK-N-SH_RA	brain:	n/a	chr12:118573865-118573876
50	YY1	chr12:118573362-118574102	A549	lung:	n/a	chr12:118573865-118573876

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	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
8	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
9	chr12:118557596..118560350-chr12:118572704..118574934,3	MCF-7	breast:
10	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
11	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:
12	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

Variant related genes	Relation type
PEBP1	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000135090	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	chr12:118572800-118573800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:118572800-118573800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:118572800-118574000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:118572800-118574000	Active TSS	Stomach Smooth Muscle	stomach
9	chr12:118572800-118574000	Active TSS	HepG2	liver
10	chr12:118572800-118574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:118572800-118574800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:118572800-118574800	Active TSS	Duodenum Mucosa	Duodenum
13	chr12:118572800-118574800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:118572800-118575000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:118572800-118575000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:118572800-118575000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:118572800-118575000	Active TSS	Brain Anterior Caudate	brain
18	chr12:118572800-118575000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:118572800-118575000	Active TSS	Rectal Smooth Muscle	rectum
20	chr12:118572800-118575400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr12:118572800-118575400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:118572800-118575400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:118572800-118575400	Active TSS	HSMM	muscle
24	chr12:118572800-118575400	Active TSS	NHDF-Ad	bronchial
25	chr12:118572800-118575400	Active TSS	NHLF	lung
26	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:118573000-118573800	Flanking Active TSS	Placenta	Placenta
28	chr12:118573000-118574000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:118573000-118574000	Active TSS	Brain Germinal Matrix	brain
30	chr12:118573000-118574800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:118573000-118574800	Active TSS	Fetal Lung	lung
32	chr12:118573000-118574800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:118573000-118574800	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr12:118573000-118574800	Active TSS	Hela-S3	cervix
35	chr12:118573000-118574800	Active TSS	NHEK	skin
36	chr12:118573000-118575000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:118573000-118575000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:118573000-118575000	Active TSS	GM12878-XiMat	blood
39	chr12:118573000-118575200	Active TSS	Ovary	ovary
40	chr12:118573000-118575400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:118573000-118575400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:118573200-118573800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr12:118573200-118574000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:118573200-118574600	Active TSS	Fetal Thymus	thymus
45	chr12:118573200-118574600	Active TSS	Dnd41	blood
46	chr12:118573200-118574800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr12:118573200-118574800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:118573200-118574800	Active TSS	Colon Smooth Muscle	Colon
49	chr12:118573200-118574800	Active TSS	Fetal Stomach	stomach
50	chr12:118573200-118574800	Active TSS	Right Ventricle	heart

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