Variant report

Variant	nsv973867
Chromosome Location	chr9:104533101-104550456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104529138..104530867-chr9:104533732..104536723,2	K562	blood:
2	chr9:104534684..104536933-chr9:104538278..104540964,2	K562	blood:
3	chr9:104534684..104536933-chr9:104538278..104540964,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540093951	chr9:104536441-104536442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193204921	chr9:104536446-104536447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113550119	chr9:104536510-104536511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548585174	chr9:104536523-104536524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140703573	chr9:104536574-104536575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551266009	chr9:104536578-104536579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142297407	chr9:104536612-104536613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569415224	chr9:104536614-104536615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376680092	chr9:104536688-104536689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570862314	chr9:104536711-104536712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150838441	chr9:104536749-104536750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368794755	chr9:104536759-104536760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530128146	chr9:104536815-104536816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183850440	chr9:104536817-104536818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548578964	chr9:104536851-104536852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567133448	chr9:104536861-104536862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535781055	chr9:104536866-104536867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555657673	chr9:104536940-104536941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373831741	chr9:104536945-104536946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188052719	chr9:104536998-104536999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559754246	chr9:104550023-104550024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182398961	chr9:104550071-104550072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541915726	chr9:104550074-104550075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562250585	chr9:104550163-104550164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531008187	chr9:104550228-104550229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143917482	chr9:104550234-104550235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148640981	chr9:104550285-104550286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142149218	chr9:104550300-104550301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533413158	chr9:104550319-104550320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543484414	chr9:104550381-104550382	Enhancers	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	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104536400-104537000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:104550000-104550400	Enhancers	Fetal Brain Male	brain

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