Variant report

Variant	esv3412265
Chromosome Location	chr14:80289484-80290457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5809963	chr14:80289499-80289500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386779180	chr14:80289500-80289501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368813236	chr14:80289501-80289502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2049832	chr14:80289502-80289503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574775843	chr14:80289612-80289613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78177896	chr14:80289644-80289645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373248049	chr14:80289665-80289666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2293818	chr14:80289678-80289679	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2293819	chr14:80289687-80289688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140085234	chr14:80289696-80289697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534185819	chr14:80289702-80289703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191165713	chr14:80289709-80289710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182468902	chr14:80289733-80289734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539997993	chr14:80289734-80289735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553729097	chr14:80289787-80289788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186261659	chr14:80289794-80289795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145633073	chr14:80289802-80289803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147749719	chr14:80289805-80289806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531251690	chr14:80289806-80289807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544767330	chr14:80289845-80289846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553909025	chr14:80289859-80289860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561357771	chr14:80289870-80289871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2293820	chr14:80289894-80289895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531921817	chr14:80289910-80289911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146422270	chr14:80289949-80289950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2293821	chr14:80290012-80290013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532339736	chr14:80290034-80290035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571975582	chr14:80290071-80290072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568790347	chr14:80290072-80290073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370311180	chr14:80290080-80290081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191027681	chr14:80290083-80290084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568213659	chr14:80290090-80290091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183294983	chr14:80290116-80290117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145761643	chr14:80290195-80290196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577026913	chr14:80290200-80290201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369167720	chr14:80290211-80290212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539410591	chr14:80290263-80290264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556220734	chr14:80290286-80290287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575876098	chr14:80290300-80290301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536228516	chr14:80290347-80290348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372873959	chr14:80290349-80290350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374215320	chr14:80290356-80290357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs932265	chr14:80290425-80290426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574888042	chr14:80290426-80290427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148966213	chr14:80290455-80290456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80286600-80291000	Enhancers	Brain Substantia Nigra	brain
2	chr14:80286800-80289600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:80287000-80289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:80287600-80290000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:80287600-80291600	Weak transcription	Fetal Lung	lung
6	chr14:80287800-80290200	Weak transcription	Fetal Kidney	kidney
7	chr14:80288000-80296000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:80288200-80289600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:80288800-80290200	Weak transcription	Brain Anterior Caudate	brain
10	chr14:80289200-80291600	Enhancers	Brain Hippocampus Middle	brain
11	chr14:80289400-80290200	Weak transcription	Brain Angular Gyrus	brain
12	chr14:80289400-80290800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:80289400-80291600	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:80289600-80290000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:80289600-80291000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:80290000-80291200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:80290000-80292000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:80290200-80290800	Enhancers	Brain Angular Gyrus	brain
19	chr14:80290200-80291000	Enhancers	Fetal Kidney	kidney
20	chr14:80290200-80291200	Enhancers	Brain Anterior Caudate	brain

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