Variant report

Variant	nsv969763
Chromosome Location	chr9:104949049-104977846
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	chr9:104973156..104974681-chr9:104986450..104988784,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562521658	chr9:104949068-104949069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531558712	chr9:104949093-104949094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201457471	chr9:104949109-104949110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558805107	chr9:104949142-104949143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530785887	chr9:104949162-104949163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148739416	chr9:104949218-104949219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184117115	chr9:104949259-104949260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142316736	chr9:104949265-104949266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189487238	chr9:104949343-104949344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151275477	chr9:104949360-104949361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372965715	chr9:104949411-104949412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535414654	chr9:104949412-104949413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139337588	chr9:104949450-104949451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566834828	chr9:104949454-104949455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181041497	chr9:104949491-104949492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558052626	chr9:104949537-104949538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375567439	chr9:104949543-104949544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578216818	chr9:104949584-104949585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540566142	chr9:104949587-104949588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113444840	chr9:104949590-104949591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560134601	chr9:104949591-104949592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573682750	chr9:104949655-104949656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566127750	chr9:104949689-104949690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542616701	chr9:104949702-104949703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562587962	chr9:104949727-104949728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187383114	chr9:104949745-104949746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533982230	chr9:104949768-104949769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191009854	chr9:104949790-104949791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181497309	chr9:104949846-104949847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527627001	chr9:104949856-104949857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377122195	chr9:104949863-104949864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34886174	chr9:104949878-104949879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547388532	chr9:104949886-104949887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185929419	chr9:104949894-104949895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34471009	chr9:104949915-104949916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10820085	chr9:104949975-104949976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548929916	chr9:104949988-104949989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569043175	chr9:104950014-104950015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56129327	chr9:104950055-104950056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144444484	chr9:104950073-104950074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146635404	chr9:104950116-104950117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72732881	chr9:104950117-104950118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116031681	chr9:104950134-104950135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574348369	chr9:104950135-104950136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542677871	chr9:104950143-104950144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112308387	chr9:104950156-104950157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576249566	chr9:104950159-104950160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183290157	chr9:104950165-104950166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10760848	chr9:104950176-104950177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs115759786	chr9:104950233-104950234	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104947400-104950200	Enhancers	Fetal Heart	heart
2	chr9:104948600-104949200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:104948800-104949800	Weak transcription	Fetal Kidney	kidney
4	chr9:104949200-104949600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:104949600-104950400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:104950000-104950200	Enhancers	Fetal Kidney	kidney
7	chr9:104950000-104950800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:104950000-104950800	Enhancers	Ovary	ovary
9	chr9:104971400-104971800	Active TSS	Aorta	Aorta

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