Variant report

Variant	nsv437796
Chromosome Location	chr14:72735003-72739506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2239257	chr14:72735003-72735004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564938666	chr14:72735024-72735025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575770379	chr14:72735048-72735049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540869716	chr14:72735065-72735066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545906469	chr14:72735107-72735108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536916678	chr14:72735125-72735126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375623678	chr14:72735215-72735216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543249667	chr14:72735239-72735240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560030451	chr14:72735269-72735270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113114974	chr14:72735282-72735283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17093776	chr14:72735310-72735311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs137893720	chr14:72735336-72735337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9323567	chr14:72735347-72735348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142313769	chr14:72735348-72735349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184691084	chr14:72735385-72735386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145979056	chr14:72735387-72735388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552176890	chr14:72735398-72735399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190356120	chr14:72735412-72735413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139502757	chr14:72735418-72735419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149730529	chr14:72735419-72735420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144554733	chr14:72735464-72735465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558893572	chr14:72735487-72735488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145459537	chr14:72735492-72735493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368803472	chr14:72735510-72735511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536485220	chr14:72735532-72735533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554752171	chr14:72735536-72735537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374228826	chr14:72735566-72735567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs847343	chr14:72735603-72735604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11849202	chr14:72735625-72735626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564922254	chr14:72735652-72735653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192948188	chr14:72735657-72735658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35133217	chr14:72735670-72735671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs562883101	chr14:72735674-72735675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530224253	chr14:72735815-72735816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548035327	chr14:72735821-72735822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560413086	chr14:72735833-72735834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200644571	chr14:72735843-72735844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141050644	chr14:72735845-72735846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2681715	chr14:72735846-72735847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148394416	chr14:72735848-72735849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200322346	chr14:72735850-72735851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386778698	chr14:72735853-72735854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370904549	chr14:72735854-72735855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6574058	chr14:72735856-72735857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552531142	chr14:72735861-72735862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76972093	chr14:72735902-72735903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148443614	chr14:72735916-72735917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113427163	chr14:72735966-72735967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549254303	chr14:72736008-72736009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549838395	chr14:72736021-72736022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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	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 ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Alzheimer''s disease	22166940	CNVD
Cancer	20164919	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72723400-72747600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72730600-72735800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72732000-72735200	Weak transcription	Fetal Brain Male	brain
4	chr14:72732200-72737000	Weak transcription	Left Ventricle	heart
5	chr14:72732600-72751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:72733000-72736800	Weak transcription	Brain Anterior Caudate	brain
7	chr14:72733000-72737000	Weak transcription	Right Ventricle	heart
8	chr14:72734600-72736800	Weak transcription	Adipose Nuclei	Adipose
9	chr14:72735000-72740000	Weak transcription	Fetal Heart	heart
10	chr14:72735200-72735400	Enhancers	Fetal Brain Male	brain
11	chr14:72735200-72735600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:72735400-72735800	Weak transcription	Fetal Brain Male	brain
13	chr14:72735800-72737400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:72735800-72737600	Enhancers	Fetal Brain Male	brain
15	chr14:72736000-72736200	Enhancers	Fetal Brain Female	brain
16	chr14:72736200-72737000	Weak transcription	Fetal Brain Female	brain
17	chr14:72736600-72737800	Enhancers	Brain Germinal Matrix	brain
18	chr14:72736800-72737200	Enhancers	Adipose Nuclei	Adipose
19	chr14:72736800-72737200	Enhancers	Brain Angular Gyrus	brain
20	chr14:72736800-72737200	Enhancers	Brain Anterior Caudate	brain
21	chr14:72736800-72737200	Enhancers	Brain Hippocampus Middle	brain
22	chr14:72736800-72737600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:72737000-72737200	Enhancers	Right Ventricle	heart
24	chr14:72737000-72737400	Enhancers	Fetal Brain Female	brain
25	chr14:72737000-72737400	Enhancers	Left Ventricle	heart
26	chr14:72738400-72738600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr14:72738600-72740400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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