Variant report

Variant	nsv522663
Chromosome Location	chr5:89995803-89998454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89996062..89999170-chr5:90000730..90003176,4	K562	blood:
2	chr5:89994085..89995994-chr5:89996980..89998521,2	K562	blood:
3	chr5:89996062..89998352-chr5:90001342..90003176,2	K562	blood:
4	chr5:89994085..89995994-chr5:89996980..89998521,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17622455	chr5:89995803-89995804	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150269158	chr5:89995838-89995839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549598725	chr5:89995845-89995846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569477812	chr5:89995907-89995908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78526168	chr5:89995914-89995915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142321078	chr5:89996051-89996052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116691038	chr5:89996060-89996061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533948059	chr5:89996084-89996085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576408102	chr5:89996112-89996113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553784074	chr5:89996142-89996143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186879416	chr5:89996183-89996184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536395012	chr5:89996225-89996226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555262054	chr5:89996229-89996230	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575403771	chr5:89996300-89996301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190900085	chr5:89996322-89996323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183321433	chr5:89996328-89996329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16869013	chr5:89996329-89996330	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs188012638	chr5:89996350-89996351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560239825	chr5:89996401-89996402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145973996	chr5:89996422-89996423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554749781	chr5:89996423-89996424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1878879	chr5:89996445-89996446	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1878880	chr5:89996490-89996491	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139842822	chr5:89996529-89996530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551754530	chr5:89996590-89996591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557648953	chr5:89996593-89996594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141748757	chr5:89996597-89996598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374265847	chr5:89996599-89996600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1878881	chr5:89996625-89996626	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75917359	chr5:89996627-89996628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536305579	chr5:89996638-89996639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556619487	chr5:89996680-89996681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs67956713	chr5:89996684-89996685	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144573131	chr5:89996746-89996747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148452953	chr5:89996750-89996751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35417003	chr5:89996760-89996761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577998261	chr5:89996775-89996776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142724746	chr5:89996804-89996805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192152978	chr5:89996897-89996898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113918010	chr5:89996924-89996925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573684737	chr5:89996938-89996939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545743465	chr5:89996941-89996942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17622555	chr5:89996966-89996967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575880952	chr5:89996981-89996982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6865858	chr5:89996984-89996985	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10514332	chr5:89997048-89997049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185340584	chr5:89997057-89997058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565184808	chr5:89997058-89997059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151004129	chr5:89997128-89997129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546723632	chr5:89997141-89997142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:89979200-90002600	Weak transcription	Brain Anterior Caudate	brain
3	chr5:89982000-90004600	Weak transcription	Fetal Brain Female	brain
4	chr5:89987000-90001200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:89987800-90007200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:89990600-90001200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:89991200-90001000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:89991800-90014000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:89992400-89999800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:89993600-90001200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:89994600-89997800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:89994600-90001600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:89994800-89999200	Weak transcription	K562	blood
14	chr5:89995000-90001600	Weak transcription	Brain Germinal Matrix	brain
15	chr5:89995000-90025800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:89995200-89996400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:89995400-89997800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:89995600-89996200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:89995600-89998800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:89996200-89996400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:89996600-89996800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:89997800-89999600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:89997800-90017600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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