Variant report

Variant	nsv526457
Chromosome Location	chr9:78923257-78924848
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	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12336000	chr9:78923257-78923258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78959640	chr9:78923270-78923271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559785998	chr9:78923308-78923309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528464963	chr9:78923327-78923328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569611701	chr9:78923328-78923329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562388927	chr9:78923334-78923335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6560510	chr9:78923351-78923352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs551150841	chr9:78923485-78923486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375360383	chr9:78923513-78923514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558725900	chr9:78923531-78923532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368204950	chr9:78923554-78923555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370571318	chr9:78923589-78923590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539154695	chr9:78923625-78923626	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566063664	chr9:78923634-78923635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114508164	chr9:78923638-78923639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180994122	chr9:78923657-78923658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368097155	chr9:78923664-78923665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535067588	chr9:78923691-78923692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372750220	chr9:78923735-78923736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555402955	chr9:78923751-78923752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186511491	chr9:78923770-78923771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62565668	chr9:78923773-78923774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557944286	chr9:78923782-78923783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189789343	chr9:78923858-78923859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546339679	chr9:78923869-78923870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530271576	chr9:78923882-78923883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149902595	chr9:78923892-78923893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573306176	chr9:78923905-78923906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554811720	chr9:78923975-78923976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145838967	chr9:78924053-78924054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531226087	chr9:78924086-78924087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544537284	chr9:78924181-78924182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564704646	chr9:78924204-78924205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148982222	chr9:78924279-78924280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546323058	chr9:78924292-78924293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566208517	chr9:78924306-78924307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528905397	chr9:78924343-78924344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548957080	chr9:78924374-78924375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143743270	chr9:78924379-78924380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538148647	chr9:78924412-78924413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181389461	chr9:78924465-78924466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185712955	chr9:78924505-78924506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12338266	chr9:78924521-78924522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533957923	chr9:78924630-78924631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553530278	chr9:78924644-78924645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577263744	chr9:78924654-78924655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115804961	chr9:78924661-78924662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200833208	chr9:78924708-78924709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147749888	chr9:78924742-78924743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190566372	chr9:78924751-78924752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78912400-78927800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:78913400-78935200	Weak transcription	Small Intestine	intestine
3	chr9:78916000-78925400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:78917400-78928000	Weak transcription	Colonic Mucosa	Colon
5	chr9:78917600-78923600	Weak transcription	Fetal Intestine Large	intestine
6	chr9:78918800-78924000	Weak transcription	Fetal Intestine Small	intestine
7	chr9:78919000-78924800	Weak transcription	Placenta	Placenta
8	chr9:78922600-78925600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:78922600-78953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:78922800-78923400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:78923000-78923800	Enhancers	Stomach Mucosa	stomach
12	chr9:78923400-78928400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:78923600-78924200	Strong transcription	Fetal Intestine Large	intestine
14	chr9:78923800-78927800	Weak transcription	Stomach Mucosa	stomach
15	chr9:78924000-78927600	Strong transcription	Fetal Intestine Small	intestine
16	chr9:78924200-78925600	Weak transcription	Fetal Intestine Large	intestine
17	chr9:78924800-78926200	Enhancers	Placenta	Placenta

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