Variant report

Variant	nsv976840
Chromosome Location	chr14:85219571-85227206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 299 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146235568	chr14:85219607-85219608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548219929	chr14:85219663-85219664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566639648	chr14:85219686-85219687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527248291	chr14:85219740-85219741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10143209	chr14:85219745-85219746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536537945	chr14:85219776-85219777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10143299	chr14:85219804-85219805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76622843	chr14:85219815-85219816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186368179	chr14:85219840-85219841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537221335	chr14:85219875-85219876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537941581	chr14:85219897-85219898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144000095	chr14:85219917-85219918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34313530	chr14:85219923-85219924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576999155	chr14:85219984-85219985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541157673	chr14:85219994-85219995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559389329	chr14:85220037-85220038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574528103	chr14:85220057-85220058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117809893	chr14:85220058-85220059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563405596	chr14:85220076-85220077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190202340	chr14:85220113-85220114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113986336	chr14:85220114-85220115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546336957	chr14:85220124-85220125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146625586	chr14:85220139-85220140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149227615	chr14:85220147-85220148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200205902	chr14:85220196-85220197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142392221	chr14:85220197-85220198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369749548	chr14:85220207-85220208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151311822	chr14:85220247-85220248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536929687	chr14:85220259-85220260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182062417	chr14:85220319-85220320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114240956	chr14:85220385-85220386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570220319	chr14:85220423-85220424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140491985	chr14:85220425-85220426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558864767	chr14:85220429-85220430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577563136	chr14:85220439-85220440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139846828	chr14:85220469-85220470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374718029	chr14:85220470-85220471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534700801	chr14:85220516-85220517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553066899	chr14:85220559-85220560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147051286	chr14:85220591-85220592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541423985	chr14:85220623-85220624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573216972	chr14:85220642-85220643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538599060	chr14:85220710-85220711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563328727	chr14:85220737-85220738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113074081	chr14:85220755-85220756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546124560	chr14:85220802-85220803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564116345	chr14:85220832-85220833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73383513	chr14:85220839-85220840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576924114	chr14:85220857-85220858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138394465	chr14:85220885-85220886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85217800-85226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:85219400-85219600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr14:85226000-85226200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:85226200-85227600	Enhancers	Hela-S3	cervix

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