Variant report

Variant	nsv1019978
Chromosome Location	chr5:152278020-152316446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 426 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571077956	chr5:152279820-152279821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560228321	chr5:152279839-152279840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143021311	chr5:152279862-152279863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556488510	chr5:152279930-152279931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568493328	chr5:152279947-152279948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535947691	chr5:152280003-152280004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554348355	chr5:152280015-152280016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572580285	chr5:152280059-152280060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545970906	chr5:152280071-152280072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552931326	chr5:152280123-152280124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7702551	chr5:152280130-152280131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs67023410	chr5:152280135-152280136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113946288	chr5:152280182-152280183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375397998	chr5:152280200-152280201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561704159	chr5:152280209-152280210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78511121	chr5:152280210-152280211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368050351	chr5:152280254-152280255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369950901	chr5:152280320-152280321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558983884	chr5:152280321-152280322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570743967	chr5:152280406-152280407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552711773	chr5:152280418-152280419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542855274	chr5:152280492-152280493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537607917	chr5:152280498-152280499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74393369	chr5:152280505-152280506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568456194	chr5:152280548-152280549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148184142	chr5:152280561-152280562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114914568	chr5:152280651-152280652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566148461	chr5:152280667-152280668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539564678	chr5:152280683-152280684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182150430	chr5:152280713-152280714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376541672	chr5:152280771-152280772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546746161	chr5:152280772-152280773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117295572	chr5:152281235-152281236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145226647	chr5:152281261-152281262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181096549	chr5:152281287-152281288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147181776	chr5:152281293-152281294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200560030	chr5:152281294-152281295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185385436	chr5:152281368-152281369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555147048	chr5:152281377-152281378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376625672	chr5:152281383-152281384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573571355	chr5:152281397-152281398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11745666	chr5:152281401-152281402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374971647	chr5:152281404-152281405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552536330	chr5:152281419-152281420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79067642	chr5:152281421-152281422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545076172	chr5:152281429-152281430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113244190	chr5:152281457-152281458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566361773	chr5:152281525-152281526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575300541	chr5:152281545-152281546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543622296	chr5:152281546-152281547	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152279800-152280200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:152279800-152280600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:152279800-152280800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:152280000-152280600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:152280000-152280800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:152281200-152282200	Enhancers	Liver	Liver
7	chr5:152282200-152287000	Weak transcription	Liver	Liver
8	chr5:152287000-152287400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:152287000-152287600	Active TSS	Liver	Liver
10	chr5:152287400-152287600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:152287600-152287800	Flanking Active TSS	Liver	Liver
12	chr5:152287800-152288000	Enhancers	Liver	Liver
13	chr5:152289600-152289800	Enhancers	Liver	Liver
14	chr5:152304600-152306000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:152305600-152305800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:152306400-152306800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:152307600-152308000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:152308000-152309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:152309400-152310000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:152312400-152313000	Enhancers	Cortex derived primary cultured neurospheres	brain

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