Variant report

Variant	nsv980940
Chromosome Location	chr5:91261206-91263626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549873890	chr5:91261220-91261221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569678468	chr5:91261221-91261222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538591699	chr5:91261226-91261227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189109124	chr5:91261230-91261231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377576948	chr5:91261256-91261257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145485686	chr5:91261268-91261269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148821945	chr5:91261274-91261275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143514962	chr5:91261314-91261315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567978764	chr5:91261318-91261319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537161462	chr5:91261322-91261323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137924010	chr5:91261339-91261340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549648085	chr5:91261360-91261361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73129594	chr5:91261361-91261362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553084848	chr5:91261432-91261433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10073603	chr5:91261452-91261453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540946315	chr5:91261483-91261484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561159990	chr5:91261484-91261485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35180609	chr5:91261486-91261487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140872593	chr5:91261575-91261576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181003129	chr5:91261576-91261577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529873940	chr5:91261602-91261603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144792238	chr5:91261605-91261606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568070285	chr5:91261625-91261626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76655117	chr5:91261637-91261638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73129595	chr5:91261641-91261642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6882105	chr5:91261690-91261691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368449626	chr5:91261757-91261758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548563181	chr5:91261771-91261772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568328559	chr5:91261930-91261931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537204464	chr5:91261949-91261950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185538757	chr5:91262095-91262096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557132012	chr5:91262106-91262107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570653719	chr5:91262118-91262119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1423280	chr5:91262137-91262138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138639348	chr5:91262147-91262148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190476564	chr5:91262162-91262163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs118072761	chr5:91262203-91262204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554857949	chr5:91262280-91262281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574780587	chr5:91262289-91262290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150797018	chr5:91262313-91262314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563456558	chr5:91262314-91262315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182143187	chr5:91262346-91262347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545551008	chr5:91262387-91262388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534812283	chr5:91262470-91262471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73771606	chr5:91262515-91262516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563469910	chr5:91262538-91262539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528031724	chr5:91262611-91262612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553645746	chr5:91262617-91262618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185984060	chr5:91262677-91262678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562094209	chr5:91262686-91262687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91260800-91261400	Enhancers	Brain Germinal Matrix	brain
2	chr5:91261200-91261600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:91261400-91261600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:91261600-91263600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:91261600-91264400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:91263600-91264800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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