Variant report

Variant	esv1800114
Chromosome Location	chr9:105515822-105517828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2417391	chr9:105515822-105515823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2417392	chr9:105515840-105515841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4237206	chr9:105515851-105515852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538484626	chr9:105515871-105515872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4634712	chr9:105515919-105515920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186312024	chr9:105515929-105515930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541834492	chr9:105515962-105515963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142637864	chr9:105515963-105515964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528414326	chr9:105515978-105515979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191226684	chr9:105515991-105515992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10820269	chr9:105516001-105516002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144175134	chr9:105516064-105516065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67299095	chr9:105516073-105516074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570018096	chr9:105516076-105516077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs66602312	chr9:105516089-105516090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs202147397	chr9:105516117-105516118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200382931	chr9:105516118-105516119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182098025	chr9:105516141-105516142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113229344	chr9:105516192-105516193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572401893	chr9:105516233-105516234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148082825	chr9:105516242-105516243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141861795	chr9:105516245-105516246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575092909	chr9:105516266-105516267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34585476	chr9:105516270-105516271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10820270	chr9:105516279-105516280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs386736967	chr9:105516291-105516292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10820272	chr9:105516292-105516293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201542316	chr9:105516296-105516297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150640892	chr9:105516301-105516302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10990297	chr9:105516311-105516312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528034235	chr9:105516342-105516343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541722242	chr9:105516351-105516352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561619764	chr9:105516367-105516368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200904782	chr9:105516382-105516383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530634016	chr9:105516384-105516385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386736968	chr9:105516387-105516388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10990298	chr9:105516388-105516389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199731125	chr9:105516390-105516391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72738864	chr9:105516391-105516392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144733720	chr9:105516398-105516399	Enhancers	n/a	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105515600-105516400	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links