Variant report

Variant	nsv615023
Chromosome Location	chr9:104946268-104980085
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIN3A-3	chr9:104946414-104946469	NONHSAT133756
2	lnc-GRIN3A-3	chr9:104946414-104946469	ucscGeneNc_uc004bbt_2

Extended variants
information (count: 168 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs556641632	chr9:104946416-104946417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10989891	chr9:104946417-104946418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs10989892	chr9:104946431-104946432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576504038	chr9:104946435-104946436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs146638513	chr9:104946467-104946468	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs377704990	chr9:104947417-104947418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75760212	chr9:104947419-104947420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546269281	chr9:104947436-104947437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559548534	chr9:104947471-104947472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs620073	chr9:104947489-104947490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs593168	chr9:104947492-104947493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568181686	chr9:104947493-104947494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75015428	chr9:104947552-104947553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531096504	chr9:104947617-104947618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550192443	chr9:104947635-104947636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187959156	chr9:104947642-104947643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76928227	chr9:104947643-104947644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371847676	chr9:104947691-104947692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555024046	chr9:104947701-104947702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193011361	chr9:104947703-104947704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535658430	chr9:104947706-104947707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140650565	chr9:104947723-104947724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369135271	chr9:104947733-104947734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541300429	chr9:104947764-104947765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74864197	chr9:104947838-104947839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111976856	chr9:104947867-104947868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569959509	chr9:104947898-104947899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575520617	chr9:104947939-104947940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538976984	chr9:104947952-104947953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546096287	chr9:104947954-104947955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553455830	chr9:104947964-104947965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573223596	chr9:104948006-104948007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143830170	chr9:104948029-104948030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542055354	chr9:104948056-104948057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185644980	chr9:104948057-104948058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553017432	chr9:104948075-104948076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531158559	chr9:104948113-104948114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34151262	chr9:104948187-104948188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112746114	chr9:104948241-104948242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5899482	chr9:104948306-104948307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188959145	chr9:104948431-104948432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575019472	chr9:104948462-104948463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542183803	chr9:104948487-104948488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528964959	chr9:104948549-104948550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142914017	chr9:104948575-104948576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111755251	chr9:104948586-104948587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12115493	chr9:104948608-104948609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192067225	chr9:104948659-104948660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547269544	chr9:104948675-104948676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75542983	chr9:104948679-104948680	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104947400-104950200	Enhancers	Fetal Heart	heart
2	chr9:104947800-104948000	Enhancers	Ovary	ovary
3	chr9:104947800-104948400	Enhancers	Stomach Smooth Muscle	stomach
4	chr9:104947800-104948800	Enhancers	Adipose Nuclei	Adipose
5	chr9:104948000-104948800	Enhancers	Fetal Kidney	kidney
6	chr9:104948200-104948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:104948600-104949200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:104948800-104949800	Weak transcription	Fetal Kidney	kidney
9	chr9:104949200-104949600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:104949600-104950400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:104950000-104950200	Enhancers	Fetal Kidney	kidney
12	chr9:104950000-104950800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:104950000-104950800	Enhancers	Ovary	ovary
14	chr9:104971400-104971800	Active TSS	Aorta	Aorta

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