Variant report

Variant	nsv516833
Chromosome Location	chr9:73502424-73514958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 349 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10780982	chr9:73502424-73502425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574455243	chr9:73502585-73502586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182043710	chr9:73502594-73502595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148960855	chr9:73502615-73502616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371814777	chr9:73502623-73502624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574942551	chr9:73502630-73502631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1361028	chr9:73502636-73502637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185855113	chr9:73502682-73502683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75257574	chr9:73502688-73502689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190389153	chr9:73502707-73502708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559857179	chr9:73502741-73502742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530307479	chr9:73502743-73502744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369612364	chr9:73502763-73502764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548745652	chr9:73502842-73502843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114534792	chr9:73502909-73502910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181626370	chr9:73502966-73502967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77212703	chr9:73502974-73502975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559967701	chr9:73502979-73502980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185917452	chr9:73503019-73503020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534867875	chr9:73503050-73503051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552903215	chr9:73503057-73503058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145681233	chr9:73503058-73503059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535268622	chr9:73503059-73503060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138254721	chr9:73503076-73503077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574979861	chr9:73503085-73503086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75315900	chr9:73503088-73503089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376013181	chr9:73503127-73503128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566567210	chr9:73503134-73503135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557707579	chr9:73503142-73503143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551910006	chr9:73503170-73503171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535744611	chr9:73503205-73503206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376432486	chr9:73503208-73503209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71507016	chr9:73503279-73503280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71367235	chr9:73503317-73503318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200861203	chr9:73503318-73503319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577471319	chr9:73503343-73503344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571771527	chr9:73503413-73503414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189985455	chr9:73503487-73503488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543280493	chr9:73503517-73503518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530345716	chr9:73503613-73503614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542425743	chr9:73503659-73503660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563787119	chr9:73503703-73503704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117487538	chr9:73503729-73503730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575394754	chr9:73503742-73503743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552289706	chr9:73503764-73503765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13289287	chr9:73503774-73503775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs78008674	chr9:73503788-73503789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142662674	chr9:73506840-73506841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12342996	chr9:73506864-73506865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577992972	chr9:73506872-73506873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73498400-73503600	Weak transcription	HUVEC	blood vessel
2	chr9:73501800-73503000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:73502600-73503200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:73503600-73503800	Enhancers	HUVEC	blood vessel
5	chr9:73506800-73508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:73508400-73508600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:73508600-73519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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