Variant report

Variant	nsv6647
Chromosome Location	chr9:105612342-105657876
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	chr9:105606535..105608555-chr9:105610541..105613009,2	K562	blood:

Extended variants
information (count: 1253 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1253 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576735773	chr9:105616845-105616846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181113075	chr9:105616912-105616913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140194133	chr9:105617029-105617030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568471440	chr9:105617041-105617042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186759814	chr9:105617066-105617067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553606493	chr9:105617087-105617088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144986651	chr9:105617111-105617112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542651443	chr9:105617125-105617126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529240870	chr9:105617131-105617132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562457506	chr9:105617176-105617177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369408334	chr9:105617189-105617190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576448794	chr9:105617235-105617236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545300070	chr9:105617239-105617240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550581715	chr9:105617251-105617252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150935707	chr9:105617296-105617297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140765220	chr9:105617326-105617327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536982085	chr9:105617372-105617373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547524851	chr9:105617429-105617430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560393204	chr9:105617459-105617460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529380708	chr9:105617460-105617461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76273858	chr9:105617521-105617522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146469106	chr9:105617522-105617523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75282057	chr9:105617528-105617529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74767098	chr9:105617530-105617531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78632168	chr9:105617531-105617532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549013649	chr9:105617581-105617582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190750005	chr9:105617598-105617599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150123018	chr9:105617607-105617608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534309397	chr9:105617613-105617614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4742862	chr9:105617626-105617627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10990360	chr9:105617632-105617633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79985045	chr9:105617667-105617668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377370765	chr9:105617791-105617792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563150343	chr9:105617805-105617806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554299109	chr9:105617870-105617871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180971600	chr9:105617879-105617880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186173235	chr9:105617890-105617891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536346243	chr9:105617931-105617932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556220812	chr9:105617961-105617962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576125657	chr9:105618021-105618022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544996535	chr9:105618038-105618039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575225252	chr9:105618150-105618151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145559989	chr9:105618174-105618175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572267076	chr9:105618220-105618221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190783514	chr9:105618253-105618254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561135582	chr9:105618260-105618261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183332389	chr9:105618287-105618288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542696910	chr9:105618351-105618352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62574362	chr9:105618403-105618404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200472526	chr9:105618405-105618406	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
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105616800-105617200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr9:105616800-105619000	Enhancers	Fetal Heart	heart
3	chr9:105617000-105617200	Enhancers	Left Ventricle	heart
4	chr9:105617200-105618000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:105618000-105618800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr9:105619000-105625400	Weak transcription	Fetal Heart	heart
7	chr9:105625400-105626600	Enhancers	Fetal Heart	heart
8	chr9:105625800-105626200	Enhancers	Fetal Intestine Small	intestine
9	chr9:105625800-105626200	Enhancers	Left Ventricle	heart
10	chr9:105626200-105629600	Weak transcription	Fetal Intestine Small	intestine
11	chr9:105626600-105628400	Weak transcription	Fetal Heart	heart
12	chr9:105628400-105630400	Enhancers	Fetal Heart	heart
13	chr9:105628600-105628800	Enhancers	Pancreas	Pancrea
14	chr9:105628600-105630200	Enhancers	NH-A	brain
15	chr9:105629200-105629400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr9:105629200-105630600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:105629400-105630000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:105629600-105630000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr9:105629600-105630000	Enhancers	Fetal Intestine Small	intestine
20	chr9:105629800-105630200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:105630000-105630200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr9:105630200-105635200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr9:105630400-105637600	Weak transcription	Fetal Heart	heart
24	chr9:105635200-105635800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr9:105645200-105645600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr9:105645800-105646800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:105646000-105648200	Enhancers	Fetal Heart	heart
28	chr9:105646400-105648600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:105648200-105650000	Weak transcription	Fetal Heart	heart
30	chr9:105650000-105650200	Active TSS	Fetal Heart	heart
31	chr9:105650200-105650400	Flanking Active TSS	Fetal Heart	heart
32	chr9:105650400-105656400	Weak transcription	Fetal Heart	heart
33	chr9:105654400-105655600	Enhancers	Fetal Intestine Small	intestine
34	chr9:105655600-105659400	Weak transcription	Fetal Intestine Small	intestine
35	chr9:105656400-105656600	Enhancers	Fetal Heart	heart
36	chr9:105656600-105657400	Weak transcription	Fetal Heart	heart
37	chr9:105657400-105657800	Enhancers	Fetal Heart	heart

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