Variant report

Variant	nsv613377
Chromosome Location	chr9:10342841-10371281
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	chr9:10366359..10367238-chr9:11319480..11320059,2	MCF-7	breast:
2	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:

Extended variants
information (count: 867 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553185926	chr9:10349236-10349237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573171056	chr9:10349262-10349263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555955064	chr9:10349267-10349268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139796607	chr9:10349312-10349313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558767313	chr9:10349336-10349337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372187419	chr9:10349337-10349338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575536642	chr9:10349351-10349352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544662554	chr9:10349415-10349416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561238947	chr9:10349425-10349426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574731065	chr9:10349431-10349432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540267595	chr9:10349442-10349443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560156659	chr9:10349448-10349449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143548615	chr9:10349449-10349450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546117096	chr9:10349495-10349496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562715413	chr9:10349498-10349499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531803724	chr9:10349514-10349515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386732537	chr9:10349534-10349535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12342062	chr9:10349536-10349537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146312006	chr9:10349564-10349565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182116563	chr9:10349581-10349582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566508102	chr9:10349592-10349593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571829129	chr9:10351810-10351811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1924083	chr9:10351875-10351876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1323492	chr9:10351898-10351899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186584764	chr9:10351929-10351930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541593633	chr9:10351947-10351948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1323491	chr9:10351990-10351991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148320162	chr9:10351994-10351995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570786536	chr9:10351997-10351998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540891665	chr9:10352006-10352007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564047195	chr9:10352037-10352038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142066739	chr9:10352089-10352090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192513355	chr9:10352091-10352092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563373482	chr9:10352115-10352116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529368583	chr9:10352131-10352132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549234949	chr9:10352159-10352160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1323490	chr9:10352183-10352184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183234593	chr9:10352188-10352189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373399087	chr9:10352226-10352227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34748049	chr9:10352232-10352233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571967597	chr9:10352242-10352243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542510459	chr9:10352257-10352258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557513777	chr9:10352273-10352274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187815981	chr9:10352275-10352276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35569974	chr9:10352277-10352278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553360326	chr9:10352327-10352328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535504978	chr9:10352329-10352330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192918996	chr9:10352437-10352438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571663522	chr9:10352440-10352441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74756894	chr9:10352460-10352461	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10349200-10349600	Enhancers	Fetal Brain Male	brain
2	chr9:10351800-10352600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:10356600-10357800	Enhancers	Brain Germinal Matrix	brain
4	chr9:10357200-10357600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:10357200-10358000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:10357400-10357800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:10357400-10358200	Enhancers	Fetal Brain Female	brain
8	chr9:10357600-10358000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:10357800-10360200	Weak transcription	Brain Germinal Matrix	brain
10	chr9:10360200-10360600	Enhancers	Brain Germinal Matrix	brain
11	chr9:10360600-10364800	Weak transcription	Brain Germinal Matrix	brain
12	chr9:10364800-10365200	Enhancers	Brain Germinal Matrix	brain
13	chr9:10365200-10369600	Weak transcription	Brain Germinal Matrix	brain
14	chr9:10366000-10366400	Enhancers	Fetal Brain Male	brain
15	chr9:10369600-10370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:10369600-10370200	Enhancers	Brain Germinal Matrix	brain
17	chr9:10370200-10371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:10371200-10371400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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