Variant report

Variant	nsv825022
Chromosome Location	chr9:105999365-106004232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202023756	chr9:105999415-105999416	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530879067	chr9:105999418-105999419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548994557	chr9:105999420-105999421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115006337	chr9:105999432-105999433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577553439	chr9:105999462-105999463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533521420	chr9:105999488-105999489	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76840882	chr9:105999501-105999502	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7854669	chr9:105999525-105999526	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542753671	chr9:105999559-105999560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373511905	chr9:105999631-105999632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139045809	chr9:105999632-105999633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34155380	chr9:105999674-105999675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575957391	chr9:105999729-105999730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149889754	chr9:105999798-105999799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144891821	chr9:105999821-105999822	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546648962	chr9:105999838-105999839	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182516039	chr9:105999839-105999840	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140935972	chr9:105999906-105999907	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549103695	chr9:105999928-105999929	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568706625	chr9:105999931-105999932	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185609131	chr9:105999933-105999934	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551179060	chr9:105999958-105999959	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570978057	chr9:105999964-105999965	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7869003	chr9:105999970-105999971	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534099688	chr9:105999982-105999983	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553449338	chr9:105999984-105999985	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567294822	chr9:105999988-105999989	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536351959	chr9:105999999-106000000	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200009287	chr9:106000004-106000005	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568759069	chr9:106000022-106000023	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377296044	chr9:106000023-106000024	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575890711	chr9:106000034-106000035	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146730576	chr9:106000037-106000038	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377222526	chr9:106000059-106000060	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74691697	chr9:106000070-106000071	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555285959	chr9:106000073-106000074	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375018075	chr9:106000079-106000080	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138294835	chr9:106000088-106000089	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190061717	chr9:106000092-106000093	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529293314	chr9:106000119-106000120	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542688606	chr9:106000131-106000132	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370459398	chr9:106000138-106000139	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199924145	chr9:106000141-106000142	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199622955	chr9:106000146-106000147	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12553379	chr9:106000147-106000148	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535756784	chr9:106000198-106000199	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571431440	chr9:106000217-106000218	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs527582143	chr9:106000231-106000232	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368402762	chr9:106000297-106000298	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547716440	chr9:106000302-106000303	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105999400-106000200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr9:105999600-106000200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:105999600-106000400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr9:105999800-106000200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr9:105999800-106000200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr9:105999800-106000200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr9:105999800-106000200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr9:106000000-106000200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:106000200-106004000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:106000200-106004200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:106000200-106004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:106000200-106007400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:106004000-106004400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:106004200-106004800	Enhancers	HUES48 Cell Line	embryonic stem cell

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