Variant report

Variant	rs191156687
Chromosome Location	chr3:133291615-133291616
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	POLR2A	chr3:133291520-133292988	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr3:133291165-133295546	GM12878	blood:	n/a	n/a
3	GATA1	chr3:133291194-133292335	PBDE	blood:	n/a	chr3:133291719-133291732 chr3:133291721-133291729 chr3:133291323-133291333 chr3:133291394-133291403
4	NFATC1	chr3:133291260-133292209	GM12878	blood:	n/a	n/a
5	BCLAF1	chr3:133291095-133292241	GM12878	blood:	n/a	chr3:133291906-133291915 chr3:133291421-133291429 chr3:133291396-133291405 chr3:133291503-133291512
6	POLR2A	chr3:133291159-133293723	HUVEC	blood vessel:	n/a	n/a
7	JUND	chr3:133290875-133293721	GM12878	blood:	n/a	chr3:133291396-133291404 chr3:133291395-133291405 chr3:133292292-133292303 chr3:133292374-133292383 chr3:133291395-133291405 chr3:133291397-133291404 chr3:133291396-133291404 chr3:133292333-133292342
8	IRF1	chr3:133291298-133292758	K562	blood:	n/a	chr3:133292260-133292274 chr3:133291496-133291513 chr3:133291704-133291713 chr3:133291502-133291512 chr3:133292350-133292364 chr3:133291395-133291404
9	POLR2A	chr3:133291583-133294198	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:133291354-133293019	K562	blood:	n/a	n/a
11	CHD2	chr3:133291191-133292830	GM12878	blood:	n/a	chr3:133292262-133292272 chr3:133292366-133292376
12	CEBPB	chr3:133291321-133292258	IMR90	lung:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
13	POLR2A	chr3:133291454-133291747	GM12878	blood:	n/a	n/a
14	FOS	chr3:133291288-133292339	HUVEC	blood vessel:	n/a	chr3:133291396-133291404 chr3:133291395-133291405 chr3:133292292-133292303 chr3:133291394-133291405 chr3:133291395-133291405 chr3:133291397-133291404 chr3:133291396-133291404
15	STAT5A	chr3:133291183-133292209	GM12878	blood:	n/a	chr3:133291295-133291306
16	MAFK	chr3:133291605-133292319	HepG2	liver:	n/a	chr3:133291692-133291706
17	POLR2A	chr3:133291012-133295811	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:133291234-133292240	GM12891	blood:	n/a	n/a
19	CEBPB	chr3:133291481-133292169	A549	lung:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
20	MAFK	chr3:133291563-133292439	IMR90	lung:	n/a	chr3:133291692-133291706
21	POLR2A	chr3:133291200-133293539	GM10847	blood:	n/a	n/a
22	POU2F2	chr3:133290845-133293004	GM12878	blood:	n/a	chr3:133292242-133292252 chr3:133292242-133292252 chr3:133292243-133292253 chr3:133291484-133291494 chr3:133292243-133292254 chr3:133291485-133291493 chr3:133292238-133292259 chr3:133292237-133292259 chr3:133292239-133292257 chr3:133291481-133291494 chr3:133292244-133292252 chr3:133291480-133291498
23	MTA3	chr3:133291179-133292195	GM12878	blood:	n/a	n/a
24	EBF1	chr3:133291261-133292154	GM12878	blood:	n/a	chr3:133291515-133291526
25	YY1	chr3:133291176-133291626	K562	blood:	n/a	n/a
26	POLR2A	chr3:133291469-133294517	IMR90	lung:	n/a	n/a
27	RELA	chr3:133291044-133292965	GM15510	blood:	n/a	n/a
28	POLR2A	chr3:133291399-133292985	PFSK-1	brain:	n/a	n/a
29	MAFF	chr3:133291236-133292317	K562	blood:	n/a	chr3:133292153-133292171
30	BHLHE40	chr3:133291182-133293907	GM12878	blood:	n/a	chr3:133292670-133292686 chr3:133292636-133292652 chr3:133292628-133292644
31	POLR2A	chr3:133291102-133294602	GM12892	blood:	n/a	n/a
32	TBP	chr3:133291261-133292911	GM12878	blood:	n/a	n/a
33	FOXM1	chr3:133291022-133292799	GM12878	blood:	n/a	n/a
34	FOS	chr3:133291254-133292352	MCF10A-Er-Src	breast:	n/a	chr3:133291396-133291404 chr3:133291395-133291405 chr3:133292292-133292303 chr3:133291394-133291405 chr3:133291395-133291405 chr3:133291397-133291404 chr3:133291396-133291404 chr3:133292333-133292342
35	MAZ	chr3:133291390-133293785	K562	blood:	n/a	n/a
36	EP300	chr3:133291268-133292631	GM12878	blood:	n/a	chr3:133291444-133291458 chr3:133291929-133291943 chr3:133291445-133291454 chr3:133291395-133291404 chr3:133292373-133292382 chr3:133291426-133291440
37	WRNIP1	chr3:133291496-133292256	GM12878	blood:	n/a	n/a
38	RELA	chr3:133291203-133292704	GM19099	blood:	n/a	n/a
39	TBP	chr3:133291428-133292930	K562	blood:	n/a	n/a
40	EBF1	chr3:133291232-133291760	GM12878	blood:	n/a	chr3:133291515-133291526
41	MAZ	chr3:133291297-133293864	GM12878	blood:	n/a	n/a
42	POU2F2	chr3:133291184-133291684	GM12878	blood:	n/a	chr3:133291484-133291494 chr3:133291485-133291493 chr3:133291481-133291494 chr3:133291480-133291498
43	IRF1	chr3:133291385-133292808	K562	blood:	n/a	chr3:133292260-133292274 chr3:133291496-133291513 chr3:133291704-133291713 chr3:133291502-133291512 chr3:133292350-133292364 chr3:133291395-133291404
44	NR2F2	chr3:133291156-133292579	K562	blood:	n/a	n/a
45	POLR2A	chr3:133291588-133293795	ProgFib	skin:	n/a	n/a
46	POLR2A	chr3:133291439-133294724	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr3:133291277-133293775	GM12878	blood:	n/a	n/a
48	CUX1	chr3:133291490-133292191	K562	blood:	n/a	n/a
49	MAX	chr3:133291539-133293024	HepG2	liver:	n/a	n/a
50	BHLHE40	chr3:133291569-133293601	HepG2	liver:	n/a	chr3:133292670-133292686 chr3:133292636-133292652 chr3:133292628-133292644

No.	Distal block	Cell Line	Cell type
1	chr21:38737416..38739692-chr3:133291408..133294289,2	MCF-7	breast:
2	chr3:133207179..133209818-chr3:133291516..133294111,3	MCF-7	breast:
3	chr3:132440102..132442906-chr3:133291126..133294877,5	K562	blood:
4	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
5	chr3:132439752..132442432-chr3:133291591..133294160,3	K562	blood:
6	chr3:133207094..133210649-chr3:133290648..133294454,4	MCF-7	breast:
7	chr3:133287190..133289166-chr3:133290175..133292220,2	K562	blood:

Variant related genes	Relation type
CDV3	TF binding region
ENSG00000157540	Chromatin interaction
ENSG00000249993	Chromatin interaction
ENSG00000273210	Chromatin interaction
ENSG00000214301	Chromatin interaction
ENSG00000113971	Chromatin interaction
ENSG00000248724	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817019	chr3:133290960-133293461	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
2	nsv591821	chr3:133290960-133293591	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	esv3393233	chr3:133291062-133294360	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	esv3356701	chr3:133291487-133294035	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	esv3331679	chr3:133291512-133294210	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133286600-133291800	Enhancers	HMEC	breast
2	chr3:133287000-133291800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:133287000-133291800	Enhancers	HSMMtube	muscle
4	chr3:133288000-133292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:133289400-133292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:133289600-133292400	Weak transcription	Esophagus	oesophagus
7	chr3:133289600-133292400	Weak transcription	Lung	lung
8	chr3:133289800-133291800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:133289800-133292400	Weak transcription	Small Intestine	intestine
10	chr3:133289800-133293200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:133290000-133291800	Weak transcription	Aorta	Aorta
12	chr3:133290000-133291800	Weak transcription	Left Ventricle	heart
13	chr3:133290600-133291800	Enhancers	Placenta	Placenta
14	chr3:133290800-133291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:133290800-133291800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:133290800-133291800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:133290800-133292000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr3:133290800-133292000	Flanking Active TSS	GM12878-XiMat	blood
19	chr3:133290800-133292000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr3:133290800-133292200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr3:133291000-133291800	Enhancers	Fetal Muscle Leg	muscle
22	chr3:133291000-133291800	Enhancers	HSMM	muscle
23	chr3:133291000-133292000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr3:133291000-133292000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr3:133291000-133292000	Enhancers	Spleen	Spleen
26	chr3:133291000-133292200	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr3:133291000-133292200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr3:133291000-133292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:133291000-133292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:133291200-133291800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:133291200-133291800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:133291200-133292000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:133291200-133292000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr3:133291200-133292000	Enhancers	Stomach Mucosa	stomach
35	chr3:133291200-133292200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr3:133291200-133292200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr3:133291200-133292200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:133291200-133292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:133291200-133294000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:133291400-133291800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr3:133291400-133291800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr3:133291400-133291800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:133291400-133291800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:133291400-133291800	Flanking Active TSS	Thymus	Thymus
45	chr3:133291400-133292000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr3:133291400-133292000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:133291400-133292000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr3:133291400-133292000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr3:133291400-133292000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:133291400-133292000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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