Variant report

Variant	esv3483180
Chromosome Location	chr9:104683802-104685405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549142209	chr9:104683817-104683818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6479070	chr9:104683830-104683831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs531559027	chr9:104683872-104683873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533635950	chr9:104683909-104683910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531708944	chr9:104683912-104683913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192428188	chr9:104683919-104683920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185577593	chr9:104683929-104683930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6479071	chr9:104683944-104683945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552951487	chr9:104683945-104683946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374489975	chr9:104683957-104683958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566573118	chr9:104683980-104683981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187822356	chr9:104684022-104684023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368759852	chr9:104684069-104684070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555475387	chr9:104684075-104684076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568443422	chr9:104684082-104684083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568775263	chr9:104684095-104684096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529315381	chr9:104684114-104684115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575621176	chr9:104684121-104684122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74409921	chr9:104684178-104684179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117020076	chr9:104684184-104684185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191918108	chr9:104684213-104684214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578199863	chr9:104684226-104684227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80341022	chr9:104684380-104684381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560760115	chr9:104684426-104684427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7861736	chr9:104684442-104684443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542626631	chr9:104684460-104684461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150561171	chr9:104684477-104684478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62579540	chr9:104684504-104684505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371509267	chr9:104684528-104684529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533953917	chr9:104684539-104684540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138349761	chr9:104684601-104684602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551560119	chr9:104684602-104684603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368523847	chr9:104684640-104684641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536811353	chr9:104684642-104684643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527478407	chr9:104684659-104684660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547327818	chr9:104684663-104684664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374293699	chr9:104684673-104684674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184347545	chr9:104684674-104684675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7037678	chr9:104684694-104684695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189129566	chr9:104684746-104684747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142876705	chr9:104684747-104684748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76065871	chr9:104684772-104684773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558231071	chr9:104684795-104684796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs16921016	chr9:104684819-104684820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534378445	chr9:104684856-104684857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554536632	chr9:104684862-104684863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374535299	chr9:104684869-104684870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574356490	chr9:104684878-104684879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181308463	chr9:104684910-104684911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562302255	chr9:104684917-104684918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104681000-104687800	Weak transcription	Liver	Liver

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