Variant report

Variant	nsv1018493
Chromosome Location	chr9:9348853-9395912
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	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:
2	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:

Extended variants
information (count: 567 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151111848	chr9:9350038-9350039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192971454	chr9:9350050-9350051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538485733	chr9:9350057-9350058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550243504	chr9:9350059-9350060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533021891	chr9:9350065-9350066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547979005	chr9:9350072-9350073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568959923	chr9:9350089-9350090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535986119	chr9:9350169-9350170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568384313	chr9:9350181-9350182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554513740	chr9:9350188-9350189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533855737	chr9:9350199-9350200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578097569	chr9:9350200-9350201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535325019	chr9:9350213-9350214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553744063	chr9:9350219-9350220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372711738	chr9:9350263-9350264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139999578	chr9:9350265-9350266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563896624	chr9:9350275-9350276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557342093	chr9:9350277-9350278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184483229	chr9:9350318-9350319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542765442	chr9:9350329-9350330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531623700	chr9:9350351-9350352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561286622	chr9:9350352-9350353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189138134	chr9:9350363-9350364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114019421	chr9:9351252-9351253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4742587	chr9:9351254-9351255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182578503	chr9:9351274-9351275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558481257	chr9:9351277-9351278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141937148	chr9:9351307-9351308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12345412	chr9:9351319-9351320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375474911	chr9:9351331-9351332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561738042	chr9:9351357-9351358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185746743	chr9:9351364-9351365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529877226	chr9:9351370-9351371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190506069	chr9:9351380-9351381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560314291	chr9:9351387-9351388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527342824	chr9:9351412-9351413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113761859	chr9:9351429-9351430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552306910	chr9:9351447-9351448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527452225	chr9:9351470-9351471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571832008	chr9:9351471-9351472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183086583	chr9:9351476-9351477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10977676	chr9:9351516-9351517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76697402	chr9:9351520-9351521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370711091	chr9:9351546-9351547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536974437	chr9:9351556-9351557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548458431	chr9:9351574-9351575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143046473	chr9:9351596-9351597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188747390	chr9:9351603-9351604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148264229	chr9:9351620-9351621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542892855	chr9:9351633-9351634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9350000-9350400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr9:9351200-9351600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:9351600-9352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:9352600-9352800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:9384800-9385600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:9385200-9385600	Enhancers	Stomach Mucosa	stomach
7	chr9:9385400-9385800	Enhancers	Aorta	Aorta
8	chr9:9385600-9390800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:9386800-9387200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:9387600-9387800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:9387800-9389600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:9389600-9390000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:9390000-9390800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:9390800-9391000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:9390800-9391000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:9391000-9391400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:9391000-9391600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:9391400-9391800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:9391600-9392200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:9392600-9393200	Active TSS	Rectal Mucosa Donor 29	rectum

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