Variant report

Variant	esv3390227
Chromosome Location	chr9:105683631-105685479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr9:105683157-105683829	PBDE	blood:	n/a	n/a
2	POLR2A	chr9:105685186-105685262	Gliobla	brain:	n/a	n/a
3	POLR2A	chr9:105685268-105685303	Gliobla	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYLC2-3	chr9:105684856-105685526	NONHSAT133769

Variant related genes	Relation type
ENSG00000234269	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569758686	chr9:105683651-105683652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561348426	chr9:105683665-105683666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374963279	chr9:105683667-105683668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552104046	chr9:105683721-105683722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190270730	chr9:105683726-105683727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138089900	chr9:105683747-105683748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554898834	chr9:105683748-105683749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528646341	chr9:105683759-105683760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs192533690	chr9:105683823-105683824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539526908	chr9:105684892-105684893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs28372411	chr9:105684896-105684897	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572796139	chr9:105684968-105684969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs113551423	chr9:105684982-105684983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs555188340	chr9:105685008-105685009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs567012302	chr9:105685094-105685095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs77822898	chr9:105685145-105685146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs372272589	chr9:105685151-105685152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs141917056	chr9:105685165-105685166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs555646620	chr9:105685170-105685171	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551938313	chr9:105685173-105685174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs575145508	chr9:105685176-105685177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs544021003	chr9:105685181-105685182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374452895	chr9:105685182-105685183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs367852331	chr9:105685183-105685184	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs534372488	chr9:105685185-105685186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs576957578	chr9:105685186-105685187	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552651051	chr9:105685189-105685190	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs545869224	chr9:105685220-105685221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs188362948	chr9:105685230-105685231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs371376880	chr9:105685241-105685242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs146307700	chr9:105685250-105685251	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs10990381	chr9:105685265-105685266	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs369235823	chr9:105685330-105685331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs531197514	chr9:105685334-105685335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs193194640	chr9:105685339-105685340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs183911031	chr9:105685348-105685349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs557619664	chr9:105685389-105685390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs539590054	chr9:105685394-105685395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs575879489	chr9:105685400-105685401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs566407141	chr9:105685420-105685421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs187103080	chr9:105685444-105685445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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