Variant report

Variant	esv3530193
Chromosome Location	chr14:70572462-70574968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7158025	chr14:70572501-70572502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201829206	chr14:70572503-70572504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561601682	chr14:70572527-70572528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186891664	chr14:70572603-70572604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528775366	chr14:70572653-70572654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80010884	chr14:70572664-70572665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571885595	chr14:70572706-70572707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191695169	chr14:70572712-70572713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551058921	chr14:70572747-70572748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569252733	chr14:70572803-70572804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536693341	chr14:70572969-70572970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561045660	chr14:70572972-70572973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554529561	chr14:70573009-70573010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571969997	chr14:70573022-70573023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572871389	chr14:70573053-70573054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12879523	chr14:70573131-70573132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540919982	chr14:70573221-70573222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35103898	chr14:70573224-70573225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367869604	chr14:70573233-70573234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543503931	chr14:70573311-70573312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557679676	chr14:70573356-70573357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150429087	chr14:70573367-70573368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577769060	chr14:70573384-70573385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544871806	chr14:70573527-70573528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563437390	chr14:70573547-70573548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36065120	chr14:70573566-70573567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575232185	chr14:70573583-70573584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542671745	chr14:70573631-70573632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141903565	chr14:70573764-70573765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528059096	chr14:70573792-70573793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4902777	chr14:70573819-70573820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375404581	chr14:70573830-70573831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28472318	chr14:70573844-70573845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs28435585	chr14:70573870-70573871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371483579	chr14:70573896-70573897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10483828	chr14:70573911-70573912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368366516	chr14:70573917-70573918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530156277	chr14:70573953-70573954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548241023	chr14:70573955-70573956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184030518	chr14:70573975-70573976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145225311	chr14:70573981-70573982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73276718	chr14:70573995-70573996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552896166	chr14:70574035-70574036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571441916	chr14:70574073-70574074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577397280	chr14:70574104-70574105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11622223	chr14:70574121-70574122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150658510	chr14:70574143-70574144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2081487	chr14:70574149-70574150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs79094109	chr14:70574178-70574179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367974632	chr14:70574187-70574188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70565800-70578400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:70565800-70578800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:70566000-70578600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:70567600-70580800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:70567800-70582200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:70573800-70574000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:70574000-70575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:70574000-70575800	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:70574200-70575000	Enhancers	Brain Germinal Matrix	brain
10	chr14:70574400-70575800	Enhancers	Brain Angular Gyrus	brain
11	chr14:70574600-70575600	Enhancers	Brain Hippocampus Middle	brain
12	chr14:70574800-70575600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:70574800-70575600	Enhancers	Fetal Brain Male	brain

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