Variant report

Variant	nsv983845
Chromosome Location	chr14:82128256-82131403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201252527	chr14:82128258-82128259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559829118	chr14:82128301-82128302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527416050	chr14:82128311-82128312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180813807	chr14:82128388-82128389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560765681	chr14:82128452-82128453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35081972	chr14:82128453-82128454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9671352	chr14:82128454-82128455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571492575	chr14:82128456-82128457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538853912	chr14:82128457-82128458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547648132	chr14:82128469-82128470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144119659	chr14:82128481-82128482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146482310	chr14:82128547-82128548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28652854	chr14:82128582-82128583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558879158	chr14:82128588-82128589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554545862	chr14:82128631-82128632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561943813	chr14:82128633-82128634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140900089	chr14:82128634-82128635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537405158	chr14:82128720-82128721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2209889	chr14:82128746-82128747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548254977	chr14:82128753-82128754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2209890	chr14:82128836-82128837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559545712	chr14:82128854-82128855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111964602	chr14:82128899-82128900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542326248	chr14:82128900-82128901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6574674	chr14:82129033-82129034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34700980	chr14:82129048-82129049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138627153	chr14:82129085-82129086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543373709	chr14:82129090-82129091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12147736	chr14:82129091-82129092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532478120	chr14:82129105-82129106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574361714	chr14:82129117-82129118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148826490	chr14:82129128-82129129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565922776	chr14:82129136-82129137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529873795	chr14:82129142-82129143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548394669	chr14:82129184-82129185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570105723	chr14:82129199-82129200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537064499	chr14:82129209-82129210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112888324	chr14:82129214-82129215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112604848	chr14:82129218-82129219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535028392	chr14:82129230-82129231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146919052	chr14:82129255-82129256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566064572	chr14:82129264-82129265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574698930	chr14:82129271-82129272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570434053	chr14:82129272-82129273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58014970	chr14:82129278-82129279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112591605	chr14:82129288-82129289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117807231	chr14:82129318-82129319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576123239	chr14:82129327-82129328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189728596	chr14:82129333-82129334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564941822	chr14:82129379-82129380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82123600-82128600	Weak transcription	Aorta	Aorta
2	chr14:82123800-82129000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:82126600-82135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:82126800-82128800	Weak transcription	Fetal Heart	heart
5	chr14:82128400-82129200	Enhancers	Pancreas	Pancrea
6	chr14:82128600-82129200	Enhancers	Aorta	Aorta
7	chr14:82128800-82130000	Enhancers	Fetal Heart	heart
8	chr14:82128800-82130000	Enhancers	Left Ventricle	heart
9	chr14:82129000-82129800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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