Variant report

Variant	esv1040317
Chromosome Location	chr17:33776091-33776094
allele	n/a
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	BCLAF1	chr17:33775059-33776231	GM12878	blood:	n/a	chr17:33775602-33775615 chr17:33775607-33775616 chr17:33775584-33775597
2	BCLAF1	chr17:33775095-33776154	GM12878	blood:	n/a	chr17:33775602-33775615 chr17:33775607-33775616 chr17:33775584-33775597
3	CHD2	chr17:33775135-33776099	GM12878	blood:	n/a	n/a
4	CREB1	chr17:33775077-33776224	GM12878	blood:	n/a	n/a
5	E2F4	chr17:33775246-33776185	MCF10A-Er-Src	breast:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
6	E2F6	chr17:33775169-33776268	A549	lung:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
7	E2F6	chr17:33775248-33776313	H1-hESC	embryonic stem cell:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
8	E2F6	chr17:33775225-33776189	A549	lung:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
9	E2F6	chr17:33775074-33777003	H1-hESC	embryonic stem cell:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
10	ELF1	chr17:33774850-33776173	GM12878	blood:	n/a	n/a
11	ELF1	chr17:33774996-33776138	GM12878	blood:	n/a	n/a
12	EP300	chr17:33775145-33776103	GM12878	blood:	n/a	chr17:33775590-33775606 chr17:33775589-33775605
13	FOXM1	chr17:33775077-33776223	GM12878	blood:	n/a	n/a
14	FOXM1	chr17:33775041-33776226	GM12878	blood:	n/a	n/a
15	IKZF1	chr17:33775182-33776480	GM12878	blood:	n/a	n/a
16	MAX	chr17:33775617-33776116	A549	lung:	n/a	n/a
17	MAX	chr17:33775217-33776307	A549	lung:	n/a	n/a
18	MAX	chr17:33775156-33776181	GM12878	blood:	n/a	n/a
19	MAX	chr17:33775073-33776336	A549	lung:	n/a	n/a
20	MAX	chr17:33775233-33776235	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr17:33775109-33776853	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr17:33775119-33776131	NB4	blood:	n/a	n/a
23	MAX	chr17:33775567-33776271	H1-hESC	embryonic stem cell:	n/a	n/a
24	MTA3	chr17:33775030-33776889	GM12878	blood:	n/a	n/a
25	MTA3	chr17:33775081-33776290	GM12878	blood:	n/a	n/a
26	MXI1	chr17:33775142-33776195	GM12878	blood:	n/a	n/a
27	MYC	chr17:33775119-33776136	NB4	blood:	n/a	n/a
28	NFATC1	chr17:33775076-33776126	GM12878	blood:	n/a	n/a
29	NFIC	chr17:33775028-33776280	GM12878	blood:	n/a	n/a
30	NFYB	chr17:33775273-33776490	GM12878	blood:	n/a	n/a
31	PML	chr17:33774890-33776239	GM12878	blood:	n/a	n/a
32	POLR2A	chr17:33775121-33776180	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr17:33775086-33776229	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:33775109-33776133	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:33774677-33776976	GM12878	blood:	n/a	n/a
36	POLR2A	chr17:33775068-33777022	GM12878	blood:	n/a	n/a
37	POLR2A	chr17:33775053-33776379	GM12892	blood:	n/a	n/a
38	POLR2A	chr17:33775098-33776936	GM18505	blood:	n/a	n/a
39	POLR2A	chr17:33775083-33776257	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:33775071-33776176	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr17:33775085-33776260	GM12892	blood:	n/a	n/a
42	POLR2A	chr17:33775205-33776105	GM10847	blood:	n/a	n/a
43	POLR2A	chr17:33775139-33776835	GM15510	blood:	n/a	n/a
44	POLR2A	chr17:33775100-33776145	PBDE	blood:	n/a	n/a
45	POLR2A	chr17:33775096-33776338	GM12878	blood:	n/a	n/a
46	POLR2A	chr17:33774937-33776937	GM12892	blood:	n/a	n/a
47	POLR2A	chr17:33775076-33777020	GM12892	blood:	n/a	n/a
48	POLR2A	chr17:33775131-33777018	NB4	blood:	n/a	n/a
49	POLR2A	chr17:33775064-33776219	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr17:33775147-33776937	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33769997..33772468-chr17:33774210..33776177,2	K562	blood:

Variant related genes	Relation type
SLFN13	TF binding region
ENSG00000154760	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 115 )

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	rs555718154	chr17:33776092-33776093	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs56390508	chr17:33776094-33776095	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Melanoma	18172304	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33774200-33777200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:33774400-33777000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:33774600-33776800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr17:33774800-33776400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:33774800-33776400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:33774800-33776400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:33774800-33776600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33774800-33776600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr17:33774800-33776600	Active TSS	Duodenum Mucosa	Duodenum
10	chr17:33774800-33776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr17:33774800-33776800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr17:33774800-33776800	Active TSS	Colon Smooth Muscle	Colon
13	chr17:33774800-33776800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr17:33775000-33776200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
15	chr17:33775000-33776400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:33775000-33776400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr17:33775000-33776800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr17:33775000-33777000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:33775000-33777000	Active TSS	Aorta	Aorta
20	chr17:33775200-33776200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:33775200-33776200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:33775200-33776200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr17:33775200-33776600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:33775200-33776800	Active TSS	Gastric	stomach
25	chr17:33775200-33776800	Bivalent/Poised TSS	NHDF-Ad	bronchial
26	chr17:33775200-33776800	Bivalent/Poised TSS	NHLF	lung
27	chr17:33775200-33777000	Bivalent Enhancer	Fetal Brain Male	brain
28	chr17:33775400-33776200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr17:33775400-33776200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:33775400-33776400	Active TSS	Primary T cells from cord blood	blood
31	chr17:33775400-33776800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr17:33775400-33776800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr17:33775400-33776800	Strong transcription	Dnd41	blood
34	chr17:33775600-33776200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:33775600-33776200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:33775600-33776200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
37	chr17:33775600-33776400	Bivalent/Poised TSS	HSMM	muscle
38	chr17:33775600-33776600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr17:33775600-33776800	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr17:33775600-33776800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:33775600-33776800	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr17:33775600-33776800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr17:33775600-33776800	Flanking Active TSS	GM12878-XiMat	blood
44	chr17:33775600-33777000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr17:33775600-33777200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:33775800-33776200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr17:33775800-33776200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr17:33775800-33776200	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
49	chr17:33775800-33776200	Flanking Active TSS	Thymus	Thymus
50	chr17:33775800-33776400	Enhancers	Ovary	ovary

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