Variant report

Variant	nsv977586
Chromosome Location	chr14:63682790-63686865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553551340	chr14:63682852-63682853	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147789271	chr14:63682944-63682945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185002892	chr14:63682972-63682973	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539089778	chr14:63682995-63682996	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534387211	chr14:63683002-63683003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190498555	chr14:63683014-63683015	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574083052	chr14:63683060-63683061	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536308842	chr14:63683087-63683088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556562112	chr14:63683212-63683213	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576504689	chr14:63683221-63683222	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532245357	chr14:63683226-63683227	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570334030	chr14:63683236-63683237	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181773037	chr14:63683266-63683267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577975514	chr14:63683276-63683277	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146214654	chr14:63683290-63683291	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540442367	chr14:63683305-63683306	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560041103	chr14:63683345-63683346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11158479	chr14:63683378-63683379	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528990591	chr14:63683402-63683403	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573508700	chr14:63683407-63683408	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562190949	chr14:63683408-63683409	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7142041	chr14:63683453-63683454	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12232155	chr14:63683517-63683518	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571630706	chr14:63683530-63683531	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539211292	chr14:63683542-63683543	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75984455	chr14:63683674-63683675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547980275	chr14:63683699-63683700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141253021	chr14:63683713-63683714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534801672	chr14:63683726-63683727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113378097	chr14:63683759-63683760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186937859	chr14:63683767-63683768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71120253	chr14:63683804-63683805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11158480	chr14:63683807-63683808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375992220	chr14:63683810-63683811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8006941	chr14:63683811-63683812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373964872	chr14:63683813-63683814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57565241	chr14:63683814-63683815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539051971	chr14:63683859-63683860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373304149	chr14:63683871-63683872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141998033	chr14:63683877-63683878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568219341	chr14:63683880-63683881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540111337	chr14:63683882-63683883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553971360	chr14:63683894-63683895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573751007	chr14:63683895-63683896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559336915	chr14:63683912-63683913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542734281	chr14:63683917-63683918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111985236	chr14:63683920-63683921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556952254	chr14:63683924-63683925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576710088	chr14:63683937-63683938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539749235	chr14:63683942-63683943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63672000-63717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63672200-63683400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:63673400-63691000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:63673600-63689800	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:63675800-63686000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:63676200-63683000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:63676200-63707600	Weak transcription	Aorta	Aorta
8	chr14:63676400-63683600	Genic enhancers	HUVEC	blood vessel
9	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:63679400-63717000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:63679800-63684600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:63680000-63689600	Weak transcription	NH-A	brain
13	chr14:63680600-63689800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:63680600-63690600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:63680800-63687800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:63681000-63687800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:63681600-63690800	Weak transcription	Fetal Stomach	stomach
18	chr14:63681600-63691000	Weak transcription	Left Ventricle	heart
19	chr14:63681600-63691000	Weak transcription	Psoas Muscle	Psoas
20	chr14:63681600-63694600	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:63682200-63690400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:63682200-63690600	Weak transcription	Fetal Lung	lung
23	chr14:63682600-63682800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:63683000-63685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:63683400-63683600	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:63683600-63684000	Weak transcription	HUVEC	blood vessel
27	chr14:63684000-63688400	Strong transcription	HUVEC	blood vessel
28	chr14:63685000-63686200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:63685400-63686200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:63685600-63686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:63686000-63687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:63686200-63687800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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