Variant report

Variant	esv988078
Chromosome Location	chr14:97421582-97430696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97423279..97425568-chr14:97429181..97431047,2	K562	blood:
2	chr14:97423279..97425568-chr14:97429181..97431047,2	K562	blood:

Extended variants
information (count: 342 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:342 , 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	rs144459665	chr14:97421587-97421588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145611667	chr14:97421605-97421606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575108666	chr14:97421634-97421635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148911332	chr14:97421637-97421638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56363380	chr14:97421638-97421639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542323850	chr14:97421671-97421672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572770724	chr14:97421676-97421677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5810787	chr14:97421725-97421726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs33936435	chr14:97421726-97421727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57463578	chr14:97421727-97421728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573874934	chr14:97421754-97421755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572465263	chr14:97421755-97421756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182818340	chr14:97421785-97421786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531301201	chr14:97421827-97421828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543173989	chr14:97421845-97421846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150937052	chr14:97421883-97421884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34783098	chr14:97421948-97421949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529064836	chr14:97421960-97421961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547181636	chr14:97422047-97422048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540395889	chr14:97422118-97422119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140866629	chr14:97422157-97422158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532234955	chr14:97422165-97422166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552578100	chr14:97422236-97422237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79491969	chr14:97422249-97422250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562141772	chr14:97422319-97422320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs710264	chr14:97422377-97422378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs710265	chr14:97422389-97422390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568556240	chr14:97422431-97422432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144682551	chr14:97422447-97422448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187206015	chr14:97422476-97422477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34324821	chr14:97422526-97422527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371798557	chr14:97422579-97422580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138376170	chr14:97422583-97422584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs856267	chr14:97422603-97422604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558401230	chr14:97422610-97422611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3953101	chr14:97422619-97422620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575950017	chr14:97422637-97422638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142954120	chr14:97422663-97422664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4017426	chr14:97422702-97422703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2370031	chr14:97422730-97422731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74076808	chr14:97422731-97422732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9671876	chr14:97422767-97422768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189667890	chr14:97422814-97422815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117046791	chr14:97422818-97422819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559109147	chr14:97422896-97422897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2887614	chr14:97422919-97422920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138936136	chr14:97422949-97422950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182376138	chr14:97422958-97422959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188634588	chr14:97422961-97422962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149439103	chr14:97422987-97422988	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	21364760	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97408600-97428600	Weak transcription	Thymus	Thymus
2	chr14:97416400-97425600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr14:97416600-97425000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:97417800-97426400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:97420200-97430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:97420600-97426600	Weak transcription	Dnd41	blood
7	chr14:97422400-97422600	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:97423600-97424000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:97424400-97424600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:97424600-97426200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:97425000-97426600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr14:97425400-97427000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:97425600-97428600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr14:97426000-97428200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:97426200-97426400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:97426200-97427400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:97426200-97431400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:97426400-97427000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:97426400-97428600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:97426400-97430200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:97426400-97431200	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:97426600-97427200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:97426600-97427400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr14:97426600-97427400	Strong transcription	Dnd41	blood
25	chr14:97426600-97428800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:97426800-97427000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr14:97427000-97427200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:97427000-97427200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:97427000-97427200	Enhancers	Fetal Muscle Trunk	muscle
30	chr14:97427000-97427600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr14:97427000-97428200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr14:97427000-97428400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:97427000-97428600	Enhancers	Primary B cells from cord blood	blood
34	chr14:97427000-97428600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr14:97427200-97427600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:97427200-97427800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr14:97427200-97432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:97427400-97427800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr14:97427400-97427800	ZNF genes & repeats	Dnd41	blood
40	chr14:97427400-97428200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:97427600-97428200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr14:97427600-97431800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:97427800-97428200	Weak transcription	Dnd41	blood
44	chr14:97427800-97428400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:97427800-97428400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr14:97428200-97428400	Enhancers	Primary T cells from cord blood	blood
47	chr14:97428200-97428400	Enhancers	Dnd41	blood
48	chr14:97428200-97428600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr14:97428200-97429400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr14:97428200-97429400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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