Variant report

Variant	nsv600048
Chromosome Location	chr5:151514171-151518810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
2	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
3	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
4	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
5	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs29826	chr5:151514171-151514172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573031518	chr5:151514182-151514183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541515391	chr5:151514188-151514189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182821192	chr5:151514267-151514268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552136842	chr5:151514290-151514291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35976352	chr5:151514333-151514334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200281065	chr5:151514336-151514337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115620272	chr5:151514352-151514353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545102504	chr5:151514376-151514377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532029077	chr5:151514385-151514386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550210324	chr5:151514441-151514442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531126699	chr5:151514442-151514443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs39804	chr5:151514484-151514485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561149530	chr5:151514549-151514550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528707308	chr5:151514619-151514620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547162234	chr5:151514639-151514640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571287986	chr5:151514645-151514646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186950704	chr5:151514690-151514691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115157739	chr5:151514708-151514709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568834043	chr5:151514765-151514766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs29825	chr5:151514782-151514783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554854078	chr5:151514846-151514847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139333984	chr5:151514874-151514875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374672292	chr5:151514895-151514896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs29824	chr5:151514956-151514957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546271701	chr5:151514958-151514959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544769960	chr5:151515030-151515031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76695863	chr5:151515031-151515032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112888550	chr5:151515056-151515057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191698817	chr5:151515084-151515085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183993324	chr5:151515099-151515100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559756317	chr5:151515107-151515108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188837998	chr5:151515124-151515125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149936801	chr5:151515199-151515200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112851297	chr5:151515201-151515202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528766749	chr5:151515255-151515256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546906353	chr5:151515260-151515261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565447951	chr5:151515332-151515333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576557492	chr5:151515339-151515340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144105761	chr5:151515350-151515351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191157327	chr5:151515388-151515389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568872129	chr5:151515435-151515436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182206739	chr5:151515440-151515441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148692529	chr5:151515441-151515442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566803664	chr5:151515481-151515482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142745351	chr5:151515504-151515505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558489980	chr5:151515573-151515574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576929194	chr5:151515587-151515588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538760038	chr5:151515610-151515611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557080973	chr5:151515611-151515612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151513800-151515000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:151515000-151518200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:151516000-151516800	Enhancers	Fetal Lung	lung
4	chr5:151516200-151517200	Enhancers	Brain Hippocampus Middle	brain
5	chr5:151516400-151518600	Enhancers	Ovary	ovary
6	chr5:151516600-151516800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:151516600-151516800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr5:151516600-151518000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:151517600-151518200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:151518200-151518600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:151518600-151531200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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