Variant report

Variant	esv3395237
Chromosome Location	chr9:103960600-103961123
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	chr9:103959474..103962405-chr9:103969484..103971633,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190305104	chr9:103960604-103960605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530571518	chr9:103960612-103960613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58627492	chr9:103960638-103960639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2417243	chr9:103960639-103960640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138300328	chr9:103960651-103960652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539523183	chr9:103960688-103960689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181680530	chr9:103960695-103960696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1346942	chr9:103960732-103960733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs536156803	chr9:103960736-103960737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185024066	chr9:103960818-103960819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575816976	chr9:103960847-103960848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189456593	chr9:103960848-103960849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117237316	chr9:103960887-103960888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12342841	chr9:103960954-103960955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540328871	chr9:103960980-103960981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560577664	chr9:103960988-103960989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550570151	chr9:103961015-103961016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370804420	chr9:103961060-103961061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542107315	chr9:103961065-103961066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181797266	chr9:103961123-103961124	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
Bipolar disorder	19114987	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103953200-103963600	Weak transcription	HepG2	liver
2	chr9:103955800-103964400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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