Variant report

Variant	esv2001049
Chromosome Location	chr14:104775050-104775471
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	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200327235	chr14:104775057-104775058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71421294	chr14:104775070-104775071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71421295	chr14:104775073-104775074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554404119	chr14:104775079-104775080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71421293	chr14:104775080-104775081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75419218	chr14:104775094-104775095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34605784	chr14:104775095-104775096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574454367	chr14:104775099-104775100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35336480	chr14:104775103-104775104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377327097	chr14:104775116-104775117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370575041	chr14:104775117-104775118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145443609	chr14:104775118-104775119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536495203	chr14:104775119-104775120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75633630	chr14:104775126-104775127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113647618	chr14:104775140-104775141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34011777	chr14:104775141-104775142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34768751	chr14:104775149-104775150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144201156	chr14:104775164-104775165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35289295	chr14:104775172-104775173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35900257	chr14:104775187-104775188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34913124	chr14:104775195-104775196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112883979	chr14:104775209-104775210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34800558	chr14:104775210-104775211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111541557	chr14:104775212-104775213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374943511	chr14:104775218-104775219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111805514	chr14:104775233-104775234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372474415	chr14:104775241-104775242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142312913	chr14:104775254-104775255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138873318	chr14:104775255-104775256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143070666	chr14:104775256-104775257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113876120	chr14:104775257-104775258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66845612	chr14:104775258-104775259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573837682	chr14:104775279-104775280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369496707	chr14:104775364-104775365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565293595	chr14:104775368-104775369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75937238	chr14:104775380-104775381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544570780	chr14:104775395-104775396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373770068	chr14:104775403-104775404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530201241	chr14:104775413-104775414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372323000	chr14:104775425-104775426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104773200-104775200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:104774800-104776000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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