Variant report

Variant	nsv969942
Chromosome Location	chr5:105154948-105169094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs541010253	chr5:105162038-105162039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564795687	chr5:105162059-105162060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566556879	chr5:105162088-105162089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527411078	chr5:105162115-105162116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533662390	chr5:105162143-105162144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550440313	chr5:105162178-105162179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563867483	chr5:105162210-105162211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549596607	chr5:105162261-105162262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567917396	chr5:105162273-105162274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529373714	chr5:105162296-105162297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567804297	chr5:105162317-105162318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62366669	chr5:105162440-105162441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76691323	chr5:105162449-105162450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565956382	chr5:105162480-105162481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76056026	chr5:105162496-105162497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139202543	chr5:105162575-105162576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574231692	chr5:105164002-105164003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543254370	chr5:105164070-105164071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188216473	chr5:105164078-105164079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559683564	chr5:105164108-105164109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67869343	chr5:105164119-105164120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192768101	chr5:105164170-105164171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552489758	chr5:105164211-105164212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72779337	chr5:105164256-105164257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531500729	chr5:105164274-105164275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373310229	chr5:105164357-105164358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184416792	chr5:105164409-105164410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80177366	chr5:105164416-105164417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189694938	chr5:105164474-105164475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569979639	chr5:105164577-105164578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529164877	chr5:105164598-105164599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs286712	chr5:105164601-105164602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565834355	chr5:105164602-105164603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567740502	chr5:105164627-105164628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367976283	chr5:105164634-105164635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534731142	chr5:105164667-105164668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181296347	chr5:105164901-105164902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185865800	chr5:105164916-105164917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537080422	chr5:105164952-105164953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373517157	chr5:105165004-105165005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556681870	chr5:105165014-105165015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74966732	chr5:105165107-105165108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560237728	chr5:105165115-105165116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189097080	chr5:105165123-105165124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573064503	chr5:105165155-105165156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545179000	chr5:105165171-105165172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181830891	chr5:105165172-105165173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142127598	chr5:105165181-105165182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370879753	chr5:105165223-105165224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530907727	chr5:105165292-105165293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105162000-105162200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:105162000-105162400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:105162000-105162400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:105162000-105162600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:105162000-105162600	Enhancers	Adipose Nuclei	Adipose
6	chr5:105162200-105162600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:105162200-105162600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:105164000-105172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:105167800-105168600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:105167800-105168600	Enhancers	Ovary	ovary

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