Variant report

Variant	rs577822698
Chromosome Location	chr2:113914749-113914750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:113914605-113915467	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:113914667-113915238	GM18951	blood:	n/a	n/a
3	POLR2A	chr2:113914546-113914873	HCT-116	colon:	n/a	n/a
4	TBP	chr2:113914638-113914795	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:113914617-113914817	HepG2	liver:	n/a	n/a
6	HDAC2	chr2:113913887-113915314	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:113914336-113914891	HepG2	liver:	n/a	n/a
8	HEY1	chr2:113913691-113915323	HepG2	liver:	n/a	chr2:113915191-113915206
9	ELF1	chr2:113914525-113915677	MCF-7	breast:	n/a	n/a
10	E2F6	chr2:113914481-113915640	H1-hESC	embryonic stem cell:	n/a	n/a
11	HDAC2	chr2:113914482-113915035	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:113914742-113914878	A549	lung:	n/a	n/a
13	POLR2A	chr2:113914644-113914858	A549	lung:	n/a	n/a
14	MAX	chr2:113914616-113915450	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:113914743-113914827	MCF-7	breast:	n/a	n/a
16	MAX	chr2:113914504-113915610	MCF-7	breast:	n/a	n/a
17	MAX	chr2:113913879-113915739	HepG2	liver:	n/a	n/a
18	EP300	chr2:113914591-113914997	T-47D	breast:	n/a	n/a
19	MAX	chr2:113914457-113915689	ECC-1	luminal epithelium:	n/a	n/a
20	HDAC2	chr2:113914505-113915722	MCF-7	breast:	n/a	n/a
21	POLR2A	chr2:113914695-113914872	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:113914639-113914878	GM12878	blood:	n/a	n/a
23	MYC	chr2:113914730-113915026	MCF-7	breast:	n/a	n/a
24	EGR1	chr2:113914690-113915099	ECC-1	luminal epithelium:	n/a	chr2:113914862-113914876
25	MXI1	chr2:113914678-113914808	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr2:113914613-113915725	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:113914639-113914802	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr2:113914726-113914838	MCF-7	breast:	n/a	n/a
29	E2F6	chr2:113914692-113914857	K562	blood:	n/a	n/a
30	YY1	chr2:113914603-113915032	ECC-1	luminal epithelium:	n/a	chr2:113914818-113914832 chr2:113914821-113914835
31	POLR2A	chr2:113914510-113915399	HCT-116	colon:	n/a	n/a
32	HEY1	chr2:113914620-113914892	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:113914477-113915513	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr2:113914577-113914868	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:113914511-113915545	ECC-1	luminal epithelium:	n/a	n/a
36	MYC	chr2:113914744-113914893	MCF-7	breast:	n/a	n/a
37	EGR1	chr2:113914685-113914915	K562	blood:	n/a	chr2:113914862-113914876
38	MAX	chr2:113914490-113915670	ECC-1	luminal epithelium:	n/a	n/a
39	EGR1	chr2:113914546-113915109	MCF-7	breast:	n/a	chr2:113914862-113914876
40	POLR2A	chr2:113914595-113914957	HepG2	liver:	n/a	n/a
41	PML	chr2:113914587-113915162	MCF-7	breast:	n/a	n/a
42	EGR1	chr2:113914667-113915038	ECC-1	luminal epithelium:	n/a	chr2:113914862-113914876
43	POLR2A	chr2:113914749-113914867	A549	lung:	n/a	n/a
44	POLR2A	chr2:113914621-113915386	GM18505	blood:	n/a	n/a
45	FOXA1	chr2:113914617-113914875	T-47D	breast:	n/a	n/a
46	POLR2A	chr2:113914603-113915638	MCF-7	breast:	n/a	n/a
47	ELF1	chr2:113914650-113915092	K562	blood:	n/a	n/a
48	POLR2A	chr2:113914638-113915211	GM15510	blood:	n/a	n/a
49	YY1	chr2:113914560-113915408	HepG2	liver:	n/a	chr2:113914818-113914832 chr2:113914821-113914835
50	POLR2A	chr2:113914729-113915068	A549	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113912322..113918193-chr2:113953978..113958305,10	MCF-7	breast:
2	chr2:113913826..113916797-chr2:113930139..113933348,3	K562	blood:
3	chr2:113913193..113914847-chr2:113997714..113999799,2	K562	blood:
4	chr2:113816094..113817595-chr2:113914612..113916340,2	MCF-7	breast:
5	chr2:113882796..113885709-chr2:113913605..113916421,2	MCF-7	breast:
6	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
7	chr2:113913340..113916449-chr2:113931202..113934969,5	MCF-7	breast:
8	chr2:113913769..113918338-chr2:113954843..113958220,11	MCF-7	breast:

No data

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000125637	Chromatin interaction
ENSG00000136695	Chromatin interaction
ENSG00000125618	Chromatin interaction
ENSG00000258395	Chromatin interaction
ENSG00000136689	Chromatin interaction
ENSG00000234174	Chromatin interaction

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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3374293	chr2:113913906-113916454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3380010	chr2:113913981-113916129	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr2:113913600-113915000	Weak transcription	Gastric	stomach
2	chr2:113913800-113914800	Flanking Active TSS	HepG2	liver
3	chr2:113914000-113914800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr2:113914000-113914800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr2:113914000-113914800	Flanking Active TSS	K562	blood
6	chr2:113914000-113915200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:113914000-113916400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:113914200-113914800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr2:113914200-113914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr2:113914200-113914800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:113914200-113914800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:113914200-113914800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr2:113914200-113914800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr2:113914200-113914800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:113914200-113914800	Flanking Active TSS	Dnd41	blood
16	chr2:113914200-113914800	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:113914200-113915400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:113914400-113914800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
19	chr2:113914400-113914800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr2:113914400-113914800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr2:113914400-113914800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:113914400-113914800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr2:113914400-113914800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr2:113914400-113914800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:113914400-113914800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:113914400-113914800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:113914400-113914800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:113914400-113914800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr2:113914400-113914800	Enhancers	Fetal Heart	heart
30	chr2:113914400-113914800	Flanking Active TSS	Fetal Lung	lung
31	chr2:113914400-113914800	Flanking Active TSS	Fetal Thymus	thymus
32	chr2:113914400-113914800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr2:113914400-113914800	Flanking Active TSS	A549	lung
34	chr2:113914400-113914800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr2:113914400-113914800	Flanking Active TSS	NHEK	skin
36	chr2:113914400-113915000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr2:113914400-113915200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:113914400-113915200	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr2:113914400-113915200	Active TSS	Brain Hippocampus Middle	brain
40	chr2:113914400-113915200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr2:113914400-113915400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:113914400-113915400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:113914400-113915400	Active TSS	Fetal Stomach	stomach
44	chr2:113914400-113915400	Active TSS	Thymus	Thymus
45	chr2:113914400-113915600	Active TSS	Primary T cells from cord blood	blood
46	chr2:113914400-113915600	Active TSS	Brain Angular Gyrus	brain
47	chr2:113914400-113915600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
48	chr2:113914400-113915800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:113914400-113915800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:113914400-113915800	Active TSS	Colonic Mucosa	Colon

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