Variant report

Variant	nsv981028
Chromosome Location	chr5:120809278-120817237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120816268..120817790-chr5:120825536..120828254,2	K562	blood:
2	chr5:120810139..120812318-chr5:120820921..120823113,2	K562	blood:

Extended variants
information (count: 247 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:247 , 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	rs189034330	chr5:120811609-120811610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147073089	chr5:120811612-120811613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182499338	chr5:120811629-120811630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564524127	chr5:120811736-120811737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573238495	chr5:120811772-120811773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552160440	chr5:120811777-120811778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138355171	chr5:120811784-120811785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540483253	chr5:120811821-120811822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565237744	chr5:120811822-120811823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540570386	chr5:120811837-120811838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143632482	chr5:120811861-120811862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551167609	chr5:120811867-120811868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184648904	chr5:120811874-120811875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189099329	chr5:120811921-120811922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549150006	chr5:120812029-120812030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181550354	chr5:120812033-120812034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534612913	chr5:120812058-120812059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185688434	chr5:120812090-120812091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79357822	chr5:120812108-120812109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529150576	chr5:120812110-120812111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538421683	chr5:120812115-120812116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114076273	chr5:120812138-120812139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114714624	chr5:120812149-120812150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536338156	chr5:120812154-120812155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554652008	chr5:120812166-120812167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62382202	chr5:120812180-120812181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112600648	chr5:120812182-120812183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199577921	chr5:120812213-120812214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17147878	chr5:120812225-120812226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147185251	chr5:120812234-120812235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138654311	chr5:120812241-120812242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114086167	chr5:120812317-120812318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369414399	chr5:120812329-120812330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1366485	chr5:120812352-120812353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530274797	chr5:120812393-120812394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1366486	chr5:120812401-120812402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527271230	chr5:120812416-120812417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116295143	chr5:120812417-120812418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115209456	chr5:120812422-120812423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571190589	chr5:120812452-120812453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191467976	chr5:120812507-120812508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550641121	chr5:120812547-120812548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10036021	chr5:120812556-120812557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536040568	chr5:120812569-120812570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554613250	chr5:120812582-120812583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370350750	chr5:120812678-120812679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573013473	chr5:120812685-120812686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181164399	chr5:120812704-120812705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558888170	chr5:120812760-120812761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557532181	chr5:120812782-120812783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120811600-120812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:120812000-120813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:120813000-120814000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:120813000-120815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:120813200-120814400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:120813400-120813800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:120813400-120814200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:120813400-120815600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:120813600-120815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:120813600-120815800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:120813800-120814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:120814000-120814200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr5:120814200-120814400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:120814200-120814600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:120814400-120814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:120814400-120814800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:120814400-120815000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:120814600-120814800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:120814600-120815000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:120814600-120815400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:120814800-120815400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:120814800-120815800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:120815000-120815200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:120815000-120816000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:120815600-120816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:120816000-120818000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:120816600-120816800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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