Variant report

Variant	nsv823124
Chromosome Location	chr5:89450772-89451737
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	chr5:89450263..89452091-chr5:89459803..89462765,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371023117	chr5:89450782-89450783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529734497	chr5:89450798-89450799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549759956	chr5:89450819-89450820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147543919	chr5:89450832-89450833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532387737	chr5:89450841-89450842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552183678	chr5:89450892-89450893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567609803	chr5:89450946-89450947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187756361	chr5:89450961-89450962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565905927	chr5:89450996-89450997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534502094	chr5:89451016-89451017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548305364	chr5:89451026-89451027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192586336	chr5:89451029-89451030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182863867	chr5:89451030-89451031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140283029	chr5:89451076-89451077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577473322	chr5:89451097-89451098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144246770	chr5:89451120-89451121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188694363	chr5:89451143-89451144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114673873	chr5:89451194-89451195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542026559	chr5:89451218-89451219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111538223	chr5:89451246-89451247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147797775	chr5:89451247-89451248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543442930	chr5:89451269-89451270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563319025	chr5:89451284-89451285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572139661	chr5:89451330-89451331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148417665	chr5:89451344-89451345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552479255	chr5:89451352-89451353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35583166	chr5:89451355-89451356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184867693	chr5:89451399-89451400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11960542	chr5:89451504-89451505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528310822	chr5:89451547-89451548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532730858	chr5:89451573-89451574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568225540	chr5:89451695-89451696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89443400-89457000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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