Variant report

Variant	esv3310822
Chromosome Location	chr14:104938031-104938408
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	chr14:104936926..104938597-chr14:104940514..104942466,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182499268	chr14:104938031-104938032	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554831483	chr14:104938033-104938034	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372987590	chr14:104938036-104938037	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574571349	chr14:104938038-104938039	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201241158	chr14:104938052-104938053	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373563323	chr14:104938106-104938107	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543851727	chr14:104938113-104938114	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543192420	chr14:104938142-104938143	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532590469	chr14:104938143-104938144	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370833033	chr14:104938167-104938168	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376238862	chr14:104938196-104938197	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546259643	chr14:104938207-104938208	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375858695	chr14:104938208-104938209	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528661874	chr14:104938223-104938224	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552080285	chr14:104938226-104938227	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576817456	chr14:104938240-104938241	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546101619	chr14:104938263-104938264	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530975525	chr14:104938267-104938268	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551005218	chr14:104938278-104938279	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545417794	chr14:104938289-104938290	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567618961	chr14:104938302-104938303	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56833004	chr14:104938321-104938322	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149408842	chr14:104938332-104938333	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553471425	chr14:104938353-104938354	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566709866	chr14:104938358-104938359	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531945559	chr14:104938372-104938373	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373768073	chr14:104938373-104938374	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60063819	chr14:104938378-104938379	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538450186	chr14:104938395-104938396	ZNF genes & repeats Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104930000-104938600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:104938000-104938400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:104938000-104938600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:104938000-104938800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:104938200-104938600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr14:104938400-104938600	Enhancers	Fetal Brain Female	brain

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