Variant report

Variant	esv3483981
Chromosome Location	chr9:93172306-93175296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93169990..93172318-chr9:93276774..93279418,2	MCF-7	breast:
2	chr9:93167062..93168707-chr9:93170210..93172372,2	MCF-7	breast:
3	chr9:93141218..93144173-chr9:93173013..93175871,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12350366	chr9:93172341-93172342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7847774	chr9:93172359-93172360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs575770357	chr9:93172471-93172472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569040097	chr9:93172484-93172485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537493905	chr9:93172545-93172546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73491725	chr9:93172575-93172576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568198734	chr9:93172586-93172587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533751518	chr9:93172622-93172623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112318665	chr9:93172630-93172631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573451193	chr9:93172637-93172638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545694019	chr9:93172652-93172653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73501930	chr9:93172712-93172713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370181025	chr9:93172713-93172714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151181086	chr9:93172721-93172722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113985335	chr9:93172737-93172738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74346282	chr9:93172774-93172775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61025823	chr9:93172804-93172805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7851238	chr9:93172813-93172814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560573954	chr9:93172818-93172819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532264993	chr9:93172833-93172834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149893287	chr9:93172878-93172879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562512959	chr9:93172910-93172911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34141009	chr9:93172931-93172932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531549066	chr9:93173009-93173010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548436188	chr9:93173019-93173020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144899869	chr9:93173093-93173094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192051810	chr9:93173107-93173108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547378415	chr9:93173167-93173168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183841082	chr9:93173204-93173205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187893741	chr9:93173239-93173240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76956286	chr9:93173306-93173307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112917640	chr9:93173316-93173317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556816901	chr9:93173327-93173328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200266778	chr9:93173328-93173329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554788910	chr9:93173329-93173330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373402526	chr9:93173336-93173337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13294232	chr9:93173337-93173338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140770059	chr9:93173368-93173369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370551654	chr9:93173376-93173377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144911821	chr9:93173377-93173378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13294406	chr9:93173399-93173400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10993376	chr9:93173406-93173407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs13298167	chr9:93173420-93173421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13298173	chr9:93173426-93173427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560238584	chr9:93173427-93173428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368178036	chr9:93173442-93173443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13283155	chr9:93173456-93173457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146751286	chr9:93173498-93173499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562783102	chr9:93173533-93173534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78487645	chr9:93173549-93173550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93169600-93174600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:93171200-93180800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:93173800-93174400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:93174000-93174400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr9:93174400-93174800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:93174400-93180800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:93174600-93175000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:93174600-93175000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:93174600-93175200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:93174800-93175000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:93174800-93176200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr9:93175000-93175200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:93175000-93177400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr9:93175000-93177600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr9:93175000-93178000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr9:93175200-93177200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:93175200-93178600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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