Variant report

Variant	esv3373447
Chromosome Location	chr14:84689099-84691047
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	chr14:84688729..84690919-chr14:84690956..84693306,2	K562	blood:
2	chr14:84688729..84690919-chr14:84690956..84693306,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527870222	chr14:84690312-84690313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76676822	chr14:84690345-84690346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2045740	chr14:84690370-84690371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531997246	chr14:84690395-84690396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141450190	chr14:84690421-84690422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191467618	chr14:84690424-84690425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538401096	chr14:84690434-84690435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547502414	chr14:84690435-84690436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565914457	chr14:84690441-84690442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369570208	chr14:84690468-84690469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554778413	chr14:84690498-84690499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576276950	chr14:84690529-84690530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145188571	chr14:84690533-84690534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2841164	chr14:84690534-84690535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147628134	chr14:84690539-84690540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577967782	chr14:84690577-84690578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545138559	chr14:84690685-84690686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560191539	chr14:84690715-84690716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572179395	chr14:84690755-84690756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142056640	chr14:84690767-84690768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150120880	chr14:84690804-84690805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561490982	chr14:84690852-84690853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531913552	chr14:84690856-84690857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550445353	chr14:84690857-84690858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2045739	chr14:84690867-84690868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370761465	chr14:84690870-84690871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553499636	chr14:84690876-84690877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547545359	chr14:84690918-84690919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3001378	chr14:84690976-84690977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373015168	chr14:84690980-84690981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529782550	chr14:84691023-84691024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548415960	chr14:84691042-84691043	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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	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	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84690200-84690800	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:84690600-84693000	Enhancers	Fetal Stomach	stomach
3	chr14:84690800-84691200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:84690800-84691400	Enhancers	Colon Smooth Muscle	Colon

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