Variant report

Variant	esv3419610
Chromosome Location	chr14:80112199-80116597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544471524	chr14:80112254-80112255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561270759	chr14:80112306-80112307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575106143	chr14:80112319-80112320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373893085	chr14:80112339-80112340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374516900	chr14:80112444-80112445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189832265	chr14:80112468-80112469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111674873	chr14:80112469-80112470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532452668	chr14:80112478-80112479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368467481	chr14:80112517-80112518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566154446	chr14:80112529-80112530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531180169	chr14:80112585-80112586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142387177	chr14:80112589-80112590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531759388	chr14:80112611-80112612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548629837	chr14:80112620-80112621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549465119	chr14:80112662-80112663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568248746	chr14:80112702-80112703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527624660	chr14:80112703-80112704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371864845	chr14:80112717-80112718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs221464	chr14:80112734-80112735	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570629153	chr14:80112797-80112798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs221463	chr14:80112839-80112840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150887885	chr14:80112859-80112860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569284876	chr14:80112885-80112886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113562100	chr14:80112910-80112911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554981994	chr14:80112915-80112916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183219257	chr14:80112932-80112933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540921294	chr14:80112939-80112940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554031584	chr14:80112945-80112946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577382756	chr14:80112964-80112965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57934289	chr14:80113059-80113060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188047211	chr14:80113130-80113131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531876375	chr14:80113189-80113190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191725755	chr14:80113205-80113206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565957700	chr14:80113286-80113287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371562133	chr14:80113291-80113292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139748039	chr14:80113368-80113369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547680178	chr14:80113395-80113396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73327970	chr14:80113430-80113431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547234905	chr14:80113455-80113456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183442520	chr14:80113457-80113458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144559584	chr14:80113465-80113466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569399092	chr14:80113505-80113506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112289907	chr14:80113523-80113524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555014225	chr14:80113532-80113533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78394650	chr14:80113554-80113555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534189844	chr14:80113556-80113557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187722854	chr14:80113560-80113561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574355083	chr14:80113606-80113607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141173624	chr14:80113710-80113711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113000443	chr14:80113743-80113744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21509527	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80106600-80112600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80110000-80114600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:80112600-80113200	Enhancers	Stomach Smooth Muscle	stomach
4	chr14:80112600-80113800	Enhancers	Adipose Nuclei	Adipose
5	chr14:80112800-80113200	Enhancers	Rectal Smooth Muscle	rectum
6	chr14:80113000-80113400	Enhancers	Colon Smooth Muscle	Colon
7	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:80113400-80114400	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:80115000-80115200	Enhancers	Colon Smooth Muscle	Colon

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