Variant report

Variant	esv15906
Chromosome Location	chr9:118195950-118197377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553510134	chr9:118195980-118195981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575993208	chr9:118196006-118196007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35765734	chr9:118196054-118196055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs398046862	chr9:118196062-118196063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200052758	chr9:118196063-118196064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10759780	chr9:118196088-118196089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535947485	chr9:118196109-118196110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544550563	chr9:118196112-118196113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376914336	chr9:118196151-118196152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561038826	chr9:118196193-118196194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529866691	chr9:118196232-118196233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546481149	chr9:118196241-118196242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10116053	chr9:118196252-118196253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528602476	chr9:118196305-118196306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114433965	chr9:118196327-118196328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10116722	chr9:118196433-118196434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537333906	chr9:118196445-118196446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2188045	chr9:118196465-118196466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567886916	chr9:118196483-118196484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147146222	chr9:118196493-118196494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183816280	chr9:118196531-118196532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572888001	chr9:118196580-118196581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538765430	chr9:118196609-118196610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373226964	chr9:118196610-118196611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527862416	chr9:118196655-118196656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12348786	chr9:118196661-118196662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35465831	chr9:118196687-118196688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564597214	chr9:118196697-118196698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558569829	chr9:118196732-118196733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575274504	chr9:118196750-118196751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201549878	chr9:118196787-118196788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114330186	chr9:118196790-118196791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561189021	chr9:118196794-118196795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34252974	chr9:118196817-118196818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79693047	chr9:118196818-118196819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67929972	chr9:118196819-118196820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147006613	chr9:118196822-118196823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71502038	chr9:118196824-118196825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372648499	chr9:118196825-118196826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189217284	chr9:118196857-118196858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560134973	chr9:118196870-118196871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202038191	chr9:118196884-118196885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528544665	chr9:118196889-118196890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79705291	chr9:118196903-118196904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7870511	chr9:118196904-118196905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530786815	chr9:118196923-118196924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181056674	chr9:118196951-118196952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567911902	chr9:118196983-118196984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536586542	chr9:118196984-118196985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547170663	chr9:118197075-118197076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118192800-118208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:118193800-118198600	Weak transcription	Fetal Kidney	kidney
3	chr9:118195800-118196200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:118195800-118196400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:118196000-118196200	Enhancers	Fetal Lung	lung
6	chr9:118196400-118200200	Weak transcription	Fetal Lung	lung
7	chr9:118196400-118207200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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