Variant report

Variant	esv2501366
Chromosome Location	chr14:104686565-104686565
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	FOXA1	chr14:104686413-104686776	HepG2	liver:	n/a	n/a
2	FOXA1	chr14:104686501-104686717	HepG2	liver:	n/a	n/a
3	FOXA1	chr14:104686476-104686726	HepG2	liver:	n/a	n/a
4	FOXA1	chr14:104686482-104686707	T-47D	breast:	n/a	n/a
5	FOXA1	chr14:104686476-104686707	HepG2	liver:	n/a	n/a
6	FOXA2	chr14:104686506-104686758	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000258913	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 108 )

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	rs66666629	chr14:104686565-104686566	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104682000-104688400	Weak transcription	Pancreas	Pancrea
2	chr14:104684200-104687200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104684200-104687800	Enhancers	Fetal Brain Female	brain
4	chr14:104684600-104687400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:104684600-104689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr14:104685000-104689200	Weak transcription	Ovary	ovary
7	chr14:104685200-104687000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:104685200-104689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:104686000-104686800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr14:104686000-104687000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:104686000-104687000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:104686000-104687200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:104686000-104687400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:104686000-104687800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr14:104686000-104688800	Enhancers	Fetal Brain Male	brain
16	chr14:104686200-104687000	Bivalent Enhancer	HepG2	liver
17	chr14:104686200-104687800	Enhancers	Fetal Lung	lung
18	chr14:104686200-104688400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr14:104686200-104690800	Enhancers	Brain Germinal Matrix	brain
20	chr14:104686400-104686600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr14:104686400-104687200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:104686400-104687200	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr14:104686400-104687800	Enhancers	Spleen	Spleen
24	chr14:104686400-104689600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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