Variant report

Variant	nsv976361
Chromosome Location	chr14:85532141-85547021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112383275	chr14:85538215-85538216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117907582	chr14:85538234-85538235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183599864	chr14:85538271-85538272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560806457	chr14:85538315-85538316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376675983	chr14:85538358-85538359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559837181	chr14:85538405-85538406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527339128	chr14:85538412-85538413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4904233	chr14:85538430-85538431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570307539	chr14:85538464-85538465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144529914	chr14:85538476-85538477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187620191	chr14:85538529-85538530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193205766	chr14:85538554-85538555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148041281	chr14:85538575-85538576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189938176	chr14:85541860-85541861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567706130	chr14:85541887-85541888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541830233	chr14:85541924-85541925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564012143	chr14:85541976-85541977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372436474	chr14:85541983-85541984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76742694	chr14:85541997-85541998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552777922	chr14:85542053-85542054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138024122	chr14:85542141-85542142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575314082	chr14:85542149-85542150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369820242	chr14:85542154-85542155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528222054	chr14:85542160-85542161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182527505	chr14:85542165-85542166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532451693	chr14:85542166-85542167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140382550	chr14:85542193-85542194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533215141	chr14:85542231-85542232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138029634	chr14:85542244-85542245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556634698	chr14:85542249-85542250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571781901	chr14:85542251-85542252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538796323	chr14:85542272-85542273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569140152	chr14:85542280-85542281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187753720	chr14:85542304-85542305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556878197	chr14:85542375-85542376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192375426	chr14:85542394-85542395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182982768	chr14:85542400-85542401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80055821	chr14:85542403-85542404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532837739	chr14:85542413-85542414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188683185	chr14:85542423-85542424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11847911	chr14:85542480-85542481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574793597	chr14:85542496-85542497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192687348	chr14:85542538-85542539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76613035	chr14:85542577-85542578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80250650	chr14:85542614-85542615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184495166	chr14:85542623-85542624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189086788	chr14:85542627-85542628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113279885	chr14:85542631-85542632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528712068	chr14:85542682-85542683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12878125	chr14:85542738-85542739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Myelofibrosis	22110671	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
Glioblastoma multiforme	21569311	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85538200-85538600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:85541800-85544600	Enhancers	NHEK	skin
3	chr14:85542800-85543000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:85542800-85544400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:85543000-85543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:85543600-85544400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:85544200-85544400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:85544200-85545400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:85544600-85545600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:85545600-85547000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:85546000-85547400	Enhancers	Fetal Heart	heart
12	chr14:85546600-85546800	Enhancers	Pancreas	Pancrea
13	chr14:85546600-85547000	Enhancers	Right Atrium	heart
14	chr14:85546800-85554800	Weak transcription	Pancreas	Pancrea

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