Variant report

Variant	nsv820296
Chromosome Location	chr14:80105679-80115419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 301 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570634236	chr14:80105712-80105713	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553619724	chr14:80105714-80105715	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572902086	chr14:80105735-80105736	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs221470	chr14:80105738-80105739	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183987456	chr14:80105789-80105790	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569563638	chr14:80105791-80105792	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535132617	chr14:80105799-80105800	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555057328	chr14:80105817-80105818	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs377402308	chr14:80105828-80105829	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571677521	chr14:80105869-80105870	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373320206	chr14:80105874-80105875	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201742012	chr14:80105952-80105953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540578193	chr14:80105959-80105960	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144097673	chr14:80105987-80105988	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs60394402	chr14:80105997-80105998	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557766174	chr14:80106019-80106020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73327961	chr14:80106076-80106077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546522501	chr14:80106091-80106092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140611087	chr14:80106116-80106117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576721149	chr14:80106135-80106136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6574516	chr14:80106197-80106198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187235800	chr14:80106199-80106200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs8021855	chr14:80106220-80106221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541054379	chr14:80106341-80106342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565123243	chr14:80106450-80106451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564548142	chr14:80106463-80106464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533076488	chr14:80106494-80106495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550054242	chr14:80106513-80106514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569475469	chr14:80106550-80106551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35932138	chr14:80106582-80106583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189597557	chr14:80106603-80106604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79149736	chr14:80106619-80106620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548790663	chr14:80106754-80106755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565418095	chr14:80106770-80106771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544359201	chr14:80106776-80106777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534755932	chr14:80106793-80106794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557464329	chr14:80106795-80106796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571223967	chr14:80106797-80106798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142682337	chr14:80106808-80106809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1991157	chr14:80106929-80106930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147356352	chr14:80107043-80107044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139541108	chr14:80107044-80107045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556030861	chr14:80107087-80107088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182206847	chr14:80107103-80107104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541563750	chr14:80107171-80107172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564279667	chr14:80107174-80107175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61296059	chr14:80107210-80107211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543323008	chr14:80107273-80107274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73327962	chr14:80107287-80107288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529183125	chr14:80107325-80107326	Weak transcription Enhancers	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80104600-80106000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:80105000-80105800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:80105000-80106400	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr14:80105000-80108600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:80105200-80105800	Enhancers	HSMMtube	muscle
6	chr14:80105200-80106000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:80105400-80106200	Weak transcription	Pancreas	Pancrea
8	chr14:80105600-80106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:80105600-80106000	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr14:80106000-80106200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:80106000-80106600	Enhancers	Stomach Smooth Muscle	stomach
12	chr14:80106000-80108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:80106000-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:80106200-80106400	Enhancers	Pancreas	Pancrea
15	chr14:80106200-80109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:80106400-80107800	Weak transcription	Pancreas	Pancrea
17	chr14:80106600-80112600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:80107800-80108000	Enhancers	Pancreas	Pancrea
19	chr14:80108000-80109000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:80108400-80110200	Enhancers	Dnd41	blood
21	chr14:80109200-80109800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:80109400-80110000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr14:80110000-80114600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:80110800-80111400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:80112600-80113200	Enhancers	Stomach Smooth Muscle	stomach
26	chr14:80112600-80113800	Enhancers	Adipose Nuclei	Adipose
27	chr14:80112800-80113200	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:80113000-80113400	Enhancers	Colon Smooth Muscle	Colon
29	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:80113400-80114400	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:80115000-80115200	Enhancers	Colon Smooth Muscle	Colon

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