Variant report

Variant	esv3446911
Chromosome Location	chr14:104993117-104993273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104989297..104991322-chr14:104992411..104994539,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111888744	chr14:104993119-104993120	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111791685	chr14:104993120-104993121	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146019311	chr14:104993136-104993137	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376779059	chr14:104993141-104993142	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541571099	chr14:104993159-104993160	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4983584	chr14:104993161-104993162	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370993482	chr14:104993178-104993179	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527288545	chr14:104993183-104993184	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372879175	chr14:104993197-104993198	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574509931	chr14:104993205-104993206	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543129422	chr14:104993216-104993217	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547030195	chr14:104993232-104993233	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566811340	chr14:104993235-104993236	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532697890	chr14:104993238-104993239	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553843093	chr14:104993246-104993247	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552711917	chr14:104993251-104993252	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569368498	chr14:104993254-104993255	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs71990589	chr14:104993269-104993270	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs56214026	chr14:104993270-104993271	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104993000-104993200	Enhancers	Gastric	stomach
2	chr14:104993000-104993800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:104993000-104994200	ZNF genes & repeats	Fetal Brain Male	brain
4	chr14:104993200-104993400	Active TSS	Fetal Heart	heart
5	chr14:104993200-104994000	ZNF genes & repeats	Fetal Kidney	kidney

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