Variant report

Variant	esv2405310
Chromosome Location	chr14:70391664-70392008
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	chr14:70390089..70391707-chr14:70394877..70397493,2	MCF-7	breast:
2	chr14:70377640..70380047-chr14:70391556..70394013,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201433697	chr14:70391676-70391677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190986952	chr14:70391686-70391687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146996303	chr14:70391688-70391689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186430476	chr14:70391689-70391690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557438597	chr14:70391699-70391700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371974926	chr14:70391714-70391715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560441396	chr14:70391782-70391783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527964281	chr14:70391783-70391784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373805972	chr14:70391801-70391802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143952572	chr14:70391809-70391810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148656770	chr14:70391894-70391895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12878908	chr14:70391933-70391934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3926202	chr14:70391941-70391942	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7492523	chr14:70391942-70391943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12878917	chr14:70391950-70391951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531835311	chr14:70391955-70391956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375378534	chr14:70391971-70391972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77178651	chr14:70391977-70391978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71395632	chr14:70391987-70391988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568558247	chr14:70391993-70391994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71423381	chr14:70392001-70392002	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70377800-70394400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70384800-70394400	Weak transcription	HepG2	liver
3	chr14:70387600-70391800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:70389000-70396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:70389200-70394400	Weak transcription	Brain Germinal Matrix	brain
6	chr14:70389400-70393800	Weak transcription	Spleen	Spleen
7	chr14:70389400-70394400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70389400-70394400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:70391000-70392800	Weak transcription	Liver	Liver
10	chr14:70391000-70393800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70391000-70397400	Weak transcription	Brain Substantia Nigra	brain
12	chr14:70391200-70392000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:70391200-70392400	Weak transcription	Hela-S3	cervix
14	chr14:70391200-70394600	Weak transcription	NH-A	brain
15	chr14:70391400-70393000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:70391400-70393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:70391400-70393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:70391400-70393400	Weak transcription	Placenta	Placenta
19	chr14:70391400-70394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:70391400-70394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:70391400-70394600	Weak transcription	Osteobl	bone
22	chr14:70391600-70392000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:70391800-70395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:70392000-70393400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:70392000-70396800	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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