Variant report

Variant	esv3337840
Chromosome Location	chr14:97173299-97177697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 251 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568684633	chr14:97173314-97173315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181133540	chr14:97173320-97173321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145411626	chr14:97173353-97173354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572116976	chr14:97173371-97173372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539428963	chr14:97173372-97173373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184323798	chr14:97173382-97173383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12890486	chr14:97173393-97173394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs376976218	chr14:97173507-97173508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146816920	chr14:97173523-97173524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139220090	chr14:97173543-97173544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12889606	chr14:97173569-97173570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs541273189	chr14:97173570-97173571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559220566	chr14:97173634-97173635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548270566	chr14:97173659-97173660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188284651	chr14:97173702-97173703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552139143	chr14:97173721-97173722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142770274	chr14:97173731-97173732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531807178	chr14:97173781-97173782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143493381	chr14:97173788-97173789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568590786	chr14:97173789-97173790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535665557	chr14:97173809-97173810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568370319	chr14:97173828-97173829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537804631	chr14:97173855-97173856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534263139	chr14:97173862-97173863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539467244	chr14:97173863-97173864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373305756	chr14:97173873-97173874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376104822	chr14:97173886-97173887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147062328	chr14:97173891-97173892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10147560	chr14:97173919-97173920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370657245	chr14:97173940-97173941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538431098	chr14:97173952-97173953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72708718	chr14:97173967-97173968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555276528	chr14:97173969-97173970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573827283	chr14:97173970-97173971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10150112	chr14:97173971-97173972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544183968	chr14:97173974-97173975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147993736	chr14:97173975-97173976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577496251	chr14:97173998-97173999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545817764	chr14:97174019-97174020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564108693	chr14:97174055-97174056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531712001	chr14:97174082-97174083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543939193	chr14:97174152-97174153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180985035	chr14:97174201-97174202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529523590	chr14:97174215-97174216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141631151	chr14:97174218-97174219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186379410	chr14:97174219-97174220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554511511	chr14:97174224-97174225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12434112	chr14:97174225-97174226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540258541	chr14:97174234-97174235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569588454	chr14:97174235-97174236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97172200-97178000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:97174800-97175000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:97175000-97175200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:97175800-97176400	Enhancers	GM12878-XiMat	blood
5	chr14:97175800-97177400	Enhancers	Fetal Brain Female	brain
6	chr14:97176000-97177400	Enhancers	Fetal Brain Male	brain
7	chr14:97176200-97176400	Enhancers	Fetal Intestine Small	intestine
8	chr14:97176400-97176600	Flanking Active TSS	GM12878-XiMat	blood
9	chr14:97176400-97177200	Enhancers	Fetal Intestine Large	intestine
10	chr14:97176600-97176800	Enhancers	GM12878-XiMat	blood
11	chr14:97176600-97177000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:97176800-97177000	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:97177000-97177200	Enhancers	Fetal Intestine Small	intestine
14	chr14:97177000-97177200	Enhancers	GM12878-XiMat	blood
15	chr14:97177200-97178400	Weak transcription	GM12878-XiMat	blood
16	chr14:97177400-97177800	Weak transcription	Fetal Brain Male	brain
17	chr14:97177400-97179200	Weak transcription	Fetal Brain Female	brain

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