Variant report

Variant	nsv615015
Chromosome Location	chr9:104841979-104858813
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	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
2	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs320286	chr9:104841979-104841980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138608078	chr9:104842013-104842014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183584192	chr9:104842029-104842030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532889022	chr9:104842041-104842042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11790712	chr9:104842043-104842044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs7870169	chr9:104842063-104842064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572552596	chr9:104842135-104842136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80002486	chr9:104842167-104842168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534562633	chr9:104842168-104842169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386736907	chr9:104842183-104842184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11790314	chr9:104842201-104842202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536872379	chr9:104842202-104842203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556766253	chr9:104842250-104842251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149317666	chr9:104842254-104842255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112176913	chr9:104842275-104842276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552846893	chr9:104842310-104842311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572354314	chr9:104842324-104842325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138140766	chr9:104842328-104842329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561244891	chr9:104842387-104842388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375337451	chr9:104842390-104842391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530238392	chr9:104842393-104842394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11792182	chr9:104842424-104842425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532748221	chr9:104842455-104842456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7870699	chr9:104842466-104842467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11790761	chr9:104842486-104842487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141915129	chr9:104842513-104842514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35245618	chr9:104842553-104842554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs16921244	chr9:104842566-104842567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11791197	chr9:104842575-104842576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568680674	chr9:104842593-104842594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570626338	chr9:104849480-104849481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545343330	chr9:104849481-104849482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180846456	chr9:104849491-104849492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559407273	chr9:104849492-104849493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77146311	chr9:104849572-104849573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566634907	chr9:104849576-104849577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551791480	chr9:104849580-104849581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560510864	chr9:104849588-104849589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs736549	chr9:104849593-104849594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537239989	chr9:104849594-104849595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549603429	chr9:104849627-104849628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146498623	chr9:104849637-104849638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537545870	chr9:104849645-104849646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs320276	chr9:104849677-104849678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs577409795	chr9:104849688-104849689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546066714	chr9:104849737-104849738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186199970	chr9:104849753-104849754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375456046	chr9:104849756-104849757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573480028	chr9:104849772-104849773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542083855	chr9:104849789-104849790	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104835000-104842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:104842400-104842600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:104849400-104850000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:104849600-104850000	Enhancers	HUES48 Cell Line	embryonic stem cell

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