Variant report

Variant	esv1233821
Chromosome Location	chr14:70039823-70039829
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	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
2	MAX	chr14:70038147-70039969	A549	lung:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
2	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:

Variant related genes	Relation type
CCDC177	TF binding region
ENSG00000175985	chromatin interactions
ENSG00000100650	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4048622	chr14:70039824-70039825	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70036600-70040200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:70037400-70040200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr14:70037800-70040200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
5	chr14:70038000-70040400	Enhancers	Liver	Liver
6	chr14:70038000-70040400	Weak transcription	Brain Angular Gyrus	brain
7	chr14:70038000-70040400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr14:70038000-70040400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:70038200-70040600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr14:70038200-70040600	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
12	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
13	chr14:70038400-70040000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr14:70038400-70040800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:70038600-70040000	Bivalent/Poised TSS	HSMM	muscle
16	chr14:70038600-70040200	Bivalent/Poised TSS	HepG2	liver
17	chr14:70039000-70040000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70039000-70041400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr14:70039200-70040000	Bivalent Enhancer	HMEC	breast
20	chr14:70039200-70040800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:70039200-70041000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr14:70039200-70041200	Bivalent Enhancer	Fetal Stomach	stomach
23	chr14:70039400-70040000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr14:70039400-70040000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr14:70039400-70040000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:70039400-70040000	Bivalent Enhancer	Spleen	Spleen
27	chr14:70039400-70040200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr14:70039400-70040200	Bivalent Enhancer	Lung	lung
29	chr14:70039400-70040600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr14:70039400-70041000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr14:70039400-70041000	Bivalent Enhancer	Esophagus	oesophagus
32	chr14:70039400-70041200	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr14:70039400-70041200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr14:70039400-70041600	Enhancers	Gastric	stomach
35	chr14:70039400-70041600	Bivalent Enhancer	HUVEC	blood vessel
36	chr14:70039400-70045000	Weak transcription	Hela-S3	cervix
37	chr14:70039600-70040000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:70039600-70040000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:70039600-70040000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:70039600-70040000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:70039600-70040000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
42	chr14:70039600-70040000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr14:70039600-70040000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
44	chr14:70039600-70040000	Bivalent Enhancer	Left Ventricle	heart
45	chr14:70039600-70040000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr14:70039600-70040000	Bivalent Enhancer	HSMMtube	muscle
47	chr14:70039600-70040200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:70039600-70040200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr14:70039600-70040200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:70039600-70040200	Bivalent Enhancer	Ovary	ovary

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