Variant report

Variant	nsv1049025
Chromosome Location	chr9:105500727-105542534
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	chr9:105499591..105502498-chr9:105505347..105508321,2	MCF-7	breast:
2	chr9:105499591..105502498-chr9:105505347..105508321,2	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 68 )

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	rs16922113	chr9:105500727-105500728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566388101	chr9:105500748-105500749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536301988	chr9:105500752-105500753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191575395	chr9:105500772-105500773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555114588	chr9:105500810-105500811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185536635	chr9:105500819-105500820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150645895	chr9:105500856-105500857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190641058	chr9:105500871-105500872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557172074	chr9:105500880-105500881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181508542	chr9:105500915-105500916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546180334	chr9:105500966-105500967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539872658	chr9:105500977-105500978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565223886	chr9:105501040-105501041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553707488	chr9:105501050-105501051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10990266	chr9:105501055-105501056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35244885	chr9:105501059-105501060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187037181	chr9:105501081-105501082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10990267	chr9:105501101-105501102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143946273	chr9:105501118-105501119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75255883	chr9:105501149-105501150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62581497	chr9:105501151-105501152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564015493	chr9:105501173-105501174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532772335	chr9:105501175-105501176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62581498	chr9:105501176-105501177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs59396990	chr9:105501191-105501192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529118403	chr9:105501215-105501216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147395818	chr9:105501219-105501220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569080772	chr9:105501229-105501230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10122260	chr9:105501255-105501256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557438275	chr9:105501265-105501266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570913986	chr9:105501272-105501273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142670526	chr9:105501283-105501284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151019933	chr9:105501294-105501295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573261368	chr9:105501314-105501315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188446451	chr9:105501321-105501322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555784533	chr9:105501336-105501337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140442090	chr9:105501341-105501342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374490035	chr9:105501353-105501354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149996293	chr9:105501372-105501373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538887238	chr9:105501406-105501407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146547479	chr9:105501482-105501483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16922118	chr9:105501545-105501546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs10820259	chr9:105501591-105501592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540179344	chr9:105501643-105501644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181127184	chr9:105501674-105501675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141275927	chr9:105501696-105501697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559751684	chr9:105501752-105501753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528854447	chr9:105501798-105501799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370247273	chr9:105501825-105501826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549298967	chr9:105501826-105501827	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105499600-105502200	Enhancers	Fetal Heart	heart
2	chr9:105515600-105516400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:105527200-105527600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:105527400-105527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:105541000-105541800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:105541000-105542000	Enhancers	Fetal Heart	heart
7	chr9:105541000-105542400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:105541200-105541600	Enhancers	NH-A	brain
9	chr9:105542000-105545600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links