Variant report

Variant	esv2351755
Chromosome Location	chr14:104895991-104897221
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	chr14:104894876..104896838-chr14:104897650..104900830,3	MCF-7	breast:
2	chr14:104890913..104893677-chr14:104894092..104896751,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560151688	chr14:104895992-104895993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs146502366	chr14:104895993-104895994	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs565506966	chr14:104896025-104896026	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531026317	chr14:104896026-104896027	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs546975449	chr14:104896034-104896035	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs551124268	chr14:104896041-104896042	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs566722461	chr14:104896066-104896067	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs567621558	chr14:104896067-104896068	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs536506771	chr14:104896085-104896086	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs139923767	chr14:104896090-104896091	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs115318514	chr14:104896091-104896092	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs538776974	chr14:104896104-104896105	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs558768318	chr14:104896109-104896110	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs142147892	chr14:104896111-104896112	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs532665761	chr14:104896119-104896120	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs182038096	chr14:104896124-104896125	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs554705655	chr14:104896131-104896132	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs151174800	chr14:104896132-104896133	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs201185105	chr14:104896140-104896141	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs202084592	chr14:104896153-104896154	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs540527542	chr14:104896160-104896161	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs149902679	chr14:104896164-104896165	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs112913521	chr14:104896177-104896178	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs560216001	chr14:104896184-104896185	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs11628912	chr14:104896200-104896201	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs147117366	chr14:104896213-104896214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370709405	chr14:104896215-104896216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545747163	chr14:104896216-104896217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562465095	chr14:104896220-104896221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531388870	chr14:104896227-104896228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11629017	chr14:104896232-104896233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192298093	chr14:104896244-104896245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561137059	chr14:104896255-104896256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530373371	chr14:104896258-104896259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538440618	chr14:104896285-104896286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546868157	chr14:104896288-104896289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566561734	chr14:104896291-104896292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374752264	chr14:104896318-104896319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532418438	chr14:104896334-104896335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367708067	chr14:104896344-104896345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552518128	chr14:104896350-104896351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371140162	chr14:104896356-104896357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56319819	chr14:104896368-104896369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112582232	chr14:104896370-104896371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56160603	chr14:104896371-104896372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111554809	chr14:104896380-104896381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569257174	chr14:104896391-104896392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538299166	chr14:104896398-104896399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111282600	chr14:104896399-104896400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554847864	chr14:104896406-104896407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104888800-104902400	Weak transcription	Right Atrium	heart
2	chr14:104891800-104902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:104892600-104898600	Weak transcription	Spleen	Spleen
4	chr14:104894000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104895400-104896000	Enhancers	Fetal Brain Male	brain
6	chr14:104895600-104896200	Bivalent Enhancer	Lung	lung
7	chr14:104895600-104901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:104895800-104896000	Enhancers	Left Ventricle	heart
9	chr14:104895800-104896000	Enhancers	Ovary	ovary

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