Variant report

Variant	esv3522749
Chromosome Location	chr3:81793884-81794549
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	ARID3A	chr3:81793376-81793973	K562	blood:	n/a	n/a
2	CBX3	chr3:81793506-81793906	HCT-116	colon:	n/a	n/a
3	CBX3	chr3:81793366-81793960	HCT-116	colon:	n/a	n/a
4	CEBPB	chr3:81793542-81794030	A549	lung:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
5	CEBPB	chr3:81793500-81793927	A549	lung:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
6	CEBPB	chr3:81793390-81794074	HCT-116	colon:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
7	CEBPB	chr3:81793538-81793969	ECC-1	luminal epithelium:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
8	CEBPB	chr3:81793514-81794039	HCT-116	colon:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
9	CEBPB	chr3:81793556-81793958	K562	blood:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
10	CEBPB	chr3:81793594-81793991	HepG2	liver:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
11	CEBPB	chr3:81793589-81793934	ECC-1	luminal epithelium:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
12	CEBPB	chr3:81793515-81794055	IMR90	lung:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
13	CEBPB	chr3:81793399-81794059	A549	lung:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
14	CEBPB	chr3:81793510-81794025	Hela-S3	cervix:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
15	CEBPB	chr3:81793566-81794045	K562	blood:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
16	CHD1	chr3:81791710-81794472	IMR90	lung:	n/a	n/a
17	CUX1	chr3:81793608-81793918	K562	blood:	n/a	n/a
18	EP300	chr3:81793588-81793914	K562	blood:	n/a	n/a
19	EP300	chr3:81793330-81794054	SK-N-SH	brain:	n/a	n/a
20	EP300	chr3:81793348-81794287	Hela-S3	cervix:	n/a	n/a
21	EP300	chr3:81791964-81794065	A549	lung:	n/a	chr3:81792520-81792534 chr3:81792698-81792707
22	EP300	chr3:81793501-81793909	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr3:81793468-81794017	A549	lung:	n/a	n/a
24	FOS	chr3:81793469-81794350	MCF10A-Er-Src	breast:	n/a	chr3:81793639-81793648
25	FOS	chr3:81793488-81793967	HUVEC	blood vessel:	n/a	chr3:81793639-81793648
26	FOS	chr3:81793442-81794330	MCF10A-Er-Src	breast:	n/a	chr3:81793639-81793648
27	FOS	chr3:81793510-81793887	MCF10A-Er-Src	breast:	n/a	chr3:81793639-81793648
28	FOS	chr3:81793512-81793943	MCF10A-Er-Src	breast:	n/a	chr3:81793639-81793648
29	FOSL1	chr3:81793453-81793996	HCT-116	colon:	n/a	chr3:81793639-81793648
30	FOSL1	chr3:81793386-81794033	HCT-116	colon:	n/a	chr3:81793639-81793648
31	FOSL2	chr3:81793594-81793973	SK-N-SH	brain:	n/a	chr3:81793639-81793648
32	FOSL2	chr3:81791896-81794099	A549	lung:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81793639-81793648 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792298-81792308
33	FOSL2	chr3:81793498-81794077	SK-N-SH	brain:	n/a	chr3:81793639-81793648
34	FOXA2	chr3:81793979-81794459	A549	lung:	n/a	n/a
35	GATA1	chr3:81792232-81793900	PBDE	blood:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696 chr3:81793134-81793142
36	GATA2	chr3:81793457-81793986	HUVEC	blood vessel:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793662-81793676 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696
37	GATA2	chr3:81793622-81793918	K562	blood:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793662-81793676 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696
38	GATA3	chr3:81793378-81794083	SK-N-SH	brain:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696
39	GATA3	chr3:81793508-81793986	A549	lung:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696
40	GATA3	chr3:81791963-81794163	A549	lung:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696 chr3:81793134-81793142
41	GATA3	chr3:81793384-81794103	SK-N-SH	brain:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696
42	GTF2F1	chr3:81793582-81793906	Hela-S3	cervix:	n/a	n/a
43	JUN	chr3:81793473-81793916	HUVEC	blood vessel:	n/a	chr3:81793639-81793648
44	JUN	chr3:81791732-81794075	K562	blood:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81793639-81793648 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792298-81792308
45	JUND	chr3:81793379-81793987	HCT-116	colon:	n/a	chr3:81793639-81793648
46	JUND	chr3:81793397-81794068	SK-N-SH	brain:	n/a	chr3:81793639-81793648
47	JUND	chr3:81793451-81794068	SK-N-SH	brain:	n/a	chr3:81793639-81793648
48	JUND	chr3:81793509-81793921	Hela-S3	cervix:	n/a	chr3:81793639-81793648
49	JUND	chr3:81793528-81793944	K562	blood:	n/a	chr3:81793639-81793648
50	JUND	chr3:81793526-81793952	A549	lung:	n/a	chr3:81793639-81793648

No.	Distal block	Cell Line	Cell type
1	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:
2	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
3	chr3:81788513..81790945-chr3:81793476..81795825,2	MCF-7	breast:
4	chr3:81792798..81795144-chr3:81808070..81811820,3	MCF-7	breast:

Variant related genes	Relation type
GBE1	TF binding region
ENSG00000114480	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548884743	chr3:81793914-81793915	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs371967002	chr3:81794014-81794015	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565117178	chr3:81794022-81794023	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185698077	chr3:81794106-81794107	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575406119	chr3:81794149-81794150	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75481736	chr3:81794182-81794183	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370606162	chr3:81794187-81794188	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557028872	chr3:81794309-81794310	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373828203	chr3:81794375-81794376	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138564371	chr3:81794421-81794422	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370013942	chr3:81794443-81794444	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
5	chr3:81782800-81796600	Weak transcription	Right Atrium	heart
6	chr3:81789200-81794400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:81789600-81794400	Enhancers	Fetal Heart	heart
8	chr3:81789600-81794600	Enhancers	Hela-S3	cervix
9	chr3:81789600-81794800	Enhancers	Adipose Nuclei	Adipose
10	chr3:81791200-81794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:81791200-81794800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:81791200-81794800	Enhancers	Liver	Liver
13	chr3:81791200-81808800	Weak transcription	Primary T cells from cord blood	blood
14	chr3:81791400-81795400	Weak transcription	Right Ventricle	heart
15	chr3:81791400-81796400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:81791600-81794400	Enhancers	K562	blood
17	chr3:81791600-81803400	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:81791800-81794000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:81791800-81794000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:81791800-81794600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:81792000-81794000	Enhancers	Stomach Mucosa	stomach
22	chr3:81792000-81795000	Enhancers	HSMM	muscle
23	chr3:81792000-81795400	Weak transcription	Psoas Muscle	Psoas
24	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
25	chr3:81792200-81794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:81792200-81794200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr3:81792200-81794400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:81792200-81794800	Enhancers	HMEC	breast
29	chr3:81792200-81795200	Enhancers	Osteobl	bone
30	chr3:81792200-81795600	Enhancers	NHLF	lung
31	chr3:81792400-81795400	Weak transcription	Ovary	ovary
32	chr3:81792600-81794000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:81792600-81794400	Flanking Active TSS	A549	lung
34	chr3:81792800-81794000	Weak transcription	Fetal Lung	lung
35	chr3:81792800-81794400	Enhancers	HepG2	liver
36	chr3:81792800-81795400	Enhancers	HUVEC	blood vessel
37	chr3:81792800-81802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:81793000-81794600	Enhancers	NH-A	brain
39	chr3:81793000-81802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:81793000-81809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:81793200-81794800	Enhancers	NHEK	skin
42	chr3:81793200-81796800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:81793200-81798400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:81793200-81803800	Weak transcription	Aorta	Aorta
45	chr3:81793200-81809200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:81793400-81794000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:81793400-81794200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:81793400-81794400	Enhancers	HSMMtube	muscle
49	chr3:81793400-81795000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:81793400-81795400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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