Variant report

Variant	esv3531027
Chromosome Location	chr14:80109999-80115197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs178349	chr14:80110021-80110022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190101341	chr14:80110054-80110055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551947273	chr14:80110204-80110205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542403270	chr14:80110226-80110227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546791702	chr14:80110266-80110267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374421186	chr14:80110282-80110283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566826794	chr14:80110365-80110366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538680800	chr14:80110421-80110422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552571743	chr14:80110457-80110458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151127695	chr14:80110510-80110511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569161892	chr14:80110562-80110563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79384939	chr14:80110690-80110691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181801952	chr14:80110693-80110694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574691486	chr14:80110718-80110719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533849556	chr14:80110743-80110744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553606764	chr14:80110964-80110965	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187193969	chr14:80111063-80111064	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545465766	chr14:80111083-80111084	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548976915	chr14:80111097-80111098	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150541832	chr14:80111118-80111119	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34467057	chr14:80111121-80111122	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562186740	chr14:80111154-80111155	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575531468	chr14:80111275-80111276	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137954687	chr14:80111276-80111277	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561108443	chr14:80111428-80111429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570439241	chr14:80111465-80111466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112065020	chr14:80111484-80111485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547045709	chr14:80111505-80111506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190918851	chr14:80111514-80111515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528014824	chr14:80111537-80111538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535272342	chr14:80111574-80111575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376329980	chr14:80111658-80111659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182000586	chr14:80111701-80111702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149460506	chr14:80111722-80111723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185076283	chr14:80111724-80111725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538094345	chr14:80111733-80111734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548518633	chr14:80111748-80111749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112433392	chr14:80111761-80111762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372257658	chr14:80111769-80111770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533724668	chr14:80111944-80111945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76351471	chr14:80111957-80111958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558284799	chr14:80111958-80111959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79676709	chr14:80111978-80111979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376711419	chr14:80111982-80111983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371288668	chr14:80112022-80112023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539568450	chr14:80112056-80112057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555693118	chr14:80112065-80112066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148643973	chr14:80112122-80112123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373478825	chr14:80112130-80112131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544471524	chr14:80112254-80112255	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80106600-80112600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80108400-80110200	Enhancers	Dnd41	blood
3	chr14:80109400-80110000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:80110000-80114600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:80110800-80111400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:80112600-80113200	Enhancers	Stomach Smooth Muscle	stomach
7	chr14:80112600-80113800	Enhancers	Adipose Nuclei	Adipose
8	chr14:80112800-80113200	Enhancers	Rectal Smooth Muscle	rectum
9	chr14:80113000-80113400	Enhancers	Colon Smooth Muscle	Colon
10	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:80113400-80114400	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:80115000-80115200	Enhancers	Colon Smooth Muscle	Colon

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