Variant report

Variant	nsv526245
Chromosome Location	chr14:79680160-79712252
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	chr14:79704504..79705275-chr6:56819303..56820074,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000151914	chromatin interactions
ENSG00000151917	chromatin interactions

Extended variants
information (count: 509 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193060726	chr14:79691611-79691612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569819918	chr14:79691628-79691629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146360413	chr14:79691629-79691630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138439970	chr14:79691634-79691635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565839637	chr14:79691647-79691648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534499705	chr14:79691649-79691650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554617985	chr14:79691660-79691661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76483577	chr14:79691682-79691683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558069772	chr14:79691719-79691720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571558924	chr14:79691728-79691729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537092283	chr14:79691731-79691732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79680103	chr14:79691734-79691735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573794216	chr14:79691739-79691740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542676678	chr14:79691762-79691763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17596883	chr14:79691774-79691775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572634614	chr14:79691783-79691784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142981435	chr14:79691794-79691795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538848793	chr14:79691798-79691799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185776837	chr14:79691825-79691826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73325855	chr14:79691853-79691854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80280160	chr14:79691871-79691872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575751715	chr14:79691873-79691874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563309608	chr14:79691921-79691922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529369657	chr14:79691947-79691948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549484943	chr14:79692024-79692025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188153472	chr14:79692062-79692063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536904227	chr14:79692147-79692148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191477356	chr14:79692148-79692149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551286010	chr14:79692161-79692162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183992282	chr14:79692178-79692179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144373418	chr14:79692192-79692193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78491393	chr14:79692250-79692251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188674458	chr14:79692289-79692290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374511197	chr14:79692298-79692299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540260741	chr14:79692299-79692300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7145315	chr14:79692312-79692313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148797580	chr14:79692324-79692325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7145792	chr14:79692353-79692354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7145504	chr14:79692416-79692417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577934578	chr14:79692426-79692427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs8008654	chr14:79692430-79692431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374870597	chr14:79692446-79692447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116015018	chr14:79692447-79692448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76742522	chr14:79692476-79692477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7145670	chr14:79692481-79692482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6574502	chr14:79692485-79692486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530916594	chr14:79692507-79692508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142270608	chr14:79692508-79692509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551566197	chr14:79692550-79692551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565041927	chr14:79692616-79692617	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
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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79691600-79691800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:79691800-79692400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:79691800-79695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:79692000-79692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:79692400-79695200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:79694800-79695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:79695000-79695800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:79695200-79696400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:79695400-79703400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:79695600-79696400	Enhancers	Colon Smooth Muscle	Colon
11	chr14:79695800-79696600	Enhancers	Fetal Stomach	stomach
12	chr14:79696000-79696400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:79696400-79697400	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:79697400-79697600	Enhancers	Colon Smooth Muscle	Colon
15	chr14:79697800-79698000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:79701600-79702000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:79708600-79709000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:79708600-79709200	Enhancers	Fetal Muscle Leg	muscle
19	chr14:79708800-79709200	Enhancers	Fetal Lung	lung

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