Variant report

Variant	esv3493492
Chromosome Location	chr14:79553549-79555947
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	chr14:79554622..79556371-chr14:79563139..79566085,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372456868	chr14:79553664-79553665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8018180	chr14:79553680-79553681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548143015	chr14:79553717-79553718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577157423	chr14:79553801-79553802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185215736	chr14:79553836-79553837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571124542	chr14:79553841-79553842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533383501	chr14:79553855-79553856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550148888	chr14:79553868-79553869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578152057	chr14:79553911-79553912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544423842	chr14:79553915-79553916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535613417	chr14:79553954-79553955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140054935	chr14:79553963-79553964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78232865	chr14:79553965-79553966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143697541	chr14:79554018-79554019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368306831	chr14:79554022-79554023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530017563	chr14:79554047-79554048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189693692	chr14:79554058-79554059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182047368	chr14:79554067-79554068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10400741	chr14:79554106-79554107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542626486	chr14:79554111-79554112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561362861	chr14:79554112-79554113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145999290	chr14:79554145-79554146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187781522	chr14:79554201-79554202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527902412	chr14:79554207-79554208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541608182	chr14:79554248-79554249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7161610	chr14:79554261-79554262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28706257	chr14:79554283-79554284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs114236256	chr14:79554284-79554285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111710937	chr14:79554291-79554292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151195191	chr14:79554295-79554296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374707900	chr14:79554296-79554297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529274273	chr14:79554309-79554310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549228854	chr14:79554335-79554336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371676291	chr14:79554352-79554353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139937193	chr14:79554369-79554370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199813559	chr14:79554392-79554393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571101467	chr14:79554414-79554415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536996632	chr14:79554420-79554421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149739778	chr14:79554444-79554445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573587975	chr14:79554445-79554446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145603586	chr14:79554450-79554451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543188951	chr14:79554467-79554468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200800844	chr14:79554538-79554539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75885765	chr14:79554599-79554600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550767742	chr14:79554602-79554603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541650798	chr14:79554610-79554611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76669716	chr14:79554719-79554720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569413781	chr14:79554755-79554756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533560738	chr14:79554866-79554867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375074641	chr14:79554894-79554895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	21098271	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
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Cancer	17440070	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79547200-79555800	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79547800-79556800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:79554000-79555800	Weak transcription	Fetal Brain Male	brain
4	chr14:79555600-79557400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:79555800-79556000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:79555800-79557600	Enhancers	Colon Smooth Muscle	Colon
7	chr14:79555800-79558000	Enhancers	Fetal Brain Male	brain
8	chr14:79555800-79558000	Enhancers	Rectal Smooth Muscle	rectum

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