Variant report

Variant	esv3310801
Chromosome Location	chr14:56189130-56191132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71448467	chr14:56189330-56189331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116209042	chr14:56189438-56189439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376497264	chr14:56189557-56189558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574579863	chr14:56189563-56189564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368669707	chr14:56189566-56189567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115265107	chr14:56189592-56189593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562860445	chr14:56189598-56189599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562987979	chr14:56189627-56189628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533019464	chr14:56189708-56189709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74407793	chr14:56189719-56189720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567066997	chr14:56189726-56189727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545424760	chr14:56189734-56189735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112475413	chr14:56189750-56189751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1953353	chr14:56189751-56189752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs567914156	chr14:56189847-56189848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114785873	chr14:56189848-56189849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189687518	chr14:56189864-56189865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577723158	chr14:56189894-56189895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538735395	chr14:56189900-56189901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376013713	chr14:56189945-56189946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115396978	chr14:56189956-56189957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147148216	chr14:56190011-56190012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547812936	chr14:56190041-56190042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180867992	chr14:56190066-56190067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78298673	chr14:56190067-56190068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186060094	chr14:56190075-56190076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543874771	chr14:56190122-56190123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562497401	chr14:56190146-56190147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533108146	chr14:56190149-56190150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551479559	chr14:56190203-56190204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560700957	chr14:56190283-56190284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142799088	chr14:56190298-56190299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72723504	chr14:56190299-56190300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183177075	chr14:56190308-56190309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570992823	chr14:56190316-56190317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567828265	chr14:56190318-56190319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538488327	chr14:56190324-56190325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140284301	chr14:56190419-56190420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59746038	chr14:56190509-56190510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538772916	chr14:56190589-56190590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553867528	chr14:56190635-56190636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561199801	chr14:56190781-56190782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572181659	chr14:56190827-56190828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533752679	chr14:56190836-56190837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144532134	chr14:56190888-56190889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185967484	chr14:56190890-56190891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74978666	chr14:56190915-56190916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562373112	chr14:56190980-56190981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577697217	chr14:56191001-56191002	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61474633	chr14:56191055-56191056	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56154000-56191000	Weak transcription	Aorta	Aorta
2	chr14:56185600-56189200	Weak transcription	HSMMtube	muscle
3	chr14:56187600-56189200	Enhancers	Hela-S3	cervix
4	chr14:56188200-56190200	Enhancers	Brain Germinal Matrix	brain
5	chr14:56188400-56189400	Weak transcription	Pancreas	Pancrea
6	chr14:56188800-56189200	Enhancers	Brain Cingulate Gyrus	brain
7	chr14:56189000-56189200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:56189000-56189800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:56189400-56189800	Enhancers	Pancreas	Pancrea
10	chr14:56189800-56190800	Weak transcription	Pancreas	Pancrea
11	chr14:56191000-56191200	ZNF genes & repeats	Aorta	Aorta
12	chr14:56191000-56191200	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links