Variant report

Variant	esv21203
Chromosome Location	chr9:105968615-105989355
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	chr9:105976143..105978580-chr9:106020426..106022404,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR13C4-4	chr9:105969455-105969725	ENSG00000225564.2
2	lnc-CYLC2-4	chr9:105968111-105968844	NONHSAT133773

Extended variants
information (count: 148 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117163795	chr9:105968620-105968621	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs560344565	chr9:105968626-105968627	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs377285092	chr9:105968661-105968662	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs182733129	chr9:105968664-105968665	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12337347	chr9:105968672-105968673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs6479163	chr9:105968675-105968676	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs562084429	chr9:105968676-105968677	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189041015	chr9:105968723-105968724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs138081798	chr9:105968734-105968735	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs551011622	chr9:105968754-105968755	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs55832060	chr9:105968766-105968767	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs552333785	chr9:105968791-105968792	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs7856077	chr9:105968807-105968808	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs369279438	chr9:105968815-105968816	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs34107275	chr9:105968831-105968832	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs566750731	chr9:105968838-105968839	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs200579880	chr9:105968842-105968843	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs531352216	chr9:105968848-105968849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142661832	chr9:105968869-105968870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568797437	chr9:105968912-105968913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549760026	chr9:105968939-105968940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537448676	chr9:105968988-105968989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144701171	chr9:105969004-105969005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568778927	chr9:105969007-105969008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148504478	chr9:105969047-105969048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10990625	chr9:105969051-105969052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553176295	chr9:105969055-105969056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547771278	chr9:105969099-105969100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1823279	chr9:105969101-105969102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554074476	chr9:105969104-105969105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1823280	chr9:105969139-105969140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575546461	chr9:105969158-105969159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141907479	chr9:105969179-105969180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564562013	chr9:105969205-105969206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1823281	chr9:105969217-105969218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576094374	chr9:105969257-105969258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184277773	chr9:105969267-105969268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188802207	chr9:105969278-105969279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75166492	chr9:105969283-105969284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140940934	chr9:105969338-105969339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569105867	chr9:105969339-105969340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11790947	chr9:105969346-105969347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79997970	chr9:105969379-105969380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372118893	chr9:105969386-105969387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192175599	chr9:105969387-105969388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144772743	chr9:105969396-105969397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377690133	chr9:105969461-105969462	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs553464453	chr9:105969479-105969480	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs573344362	chr9:105969527-105969528	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs147928642	chr9:105969530-105969531	Weak transcription	lncRNA	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
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105966200-105970600	Weak transcription	Aorta	Aorta
2	chr9:105970600-105970800	Enhancers	Aorta	Aorta
3	chr9:105979400-105979600	Enhancers	Aorta	Aorta
4	chr9:105988000-105988600	Enhancers	Ovary	ovary
5	chr9:105988000-105989000	Enhancers	Fetal Brain Male	brain

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