Variant report

Variant	nsv1017939
Chromosome Location	chr9:9386437-9415009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1160 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10124880	chr9:9386437-9386438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540508959	chr9:9386441-9386442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186776177	chr9:9386448-9386449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190532879	chr9:9386468-9386469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183023559	chr9:9386475-9386476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370466535	chr9:9386477-9386478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562598651	chr9:9386491-9386492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187752251	chr9:9386541-9386542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548150384	chr9:9386567-9386568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559682702	chr9:9386574-9386575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191003606	chr9:9386589-9386590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10114865	chr9:9386599-9386600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182772550	chr9:9386618-9386619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187650500	chr9:9386619-9386620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192863050	chr9:9386652-9386653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146979413	chr9:9386691-9386692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114050190	chr9:9386694-9386695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536314976	chr9:9386736-9386737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555122505	chr9:9386752-9386753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573230587	chr9:9386756-9386757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10816111	chr9:9386761-9386762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184791738	chr9:9386769-9386770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576376197	chr9:9386786-9386787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529224986	chr9:9386793-9386794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10124994	chr9:9386820-9386821	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562573783	chr9:9386825-9386826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574587439	chr9:9386837-9386838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187389401	chr9:9386845-9386846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192137385	chr9:9386863-9386864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10124340	chr9:9386882-9386883	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527252774	chr9:9386898-9386899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146207194	chr9:9386899-9386900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73397079	chr9:9386910-9386911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs16929238	chr9:9386933-9386934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551272442	chr9:9386947-9386948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551979973	chr9:9386956-9386957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559190644	chr9:9387051-9387052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112554146	chr9:9387076-9387077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575156740	chr9:9387077-9387078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79156208	chr9:9387088-9387089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184632850	chr9:9387101-9387102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139212798	chr9:9387136-9387137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551257867	chr9:9387162-9387163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115498815	chr9:9387185-9387186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189394796	chr9:9387191-9387192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560856426	chr9:9387198-9387199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182172359	chr9:9387271-9387272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559018922	chr9:9387308-9387309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10115635	chr9:9387330-9387331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539894269	chr9:9387359-9387360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9385600-9390800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:9386800-9387200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr9:9387600-9387800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:9387800-9389600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:9389600-9390000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:9390000-9390800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:9390800-9391000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:9390800-9391000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:9391000-9391400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:9391000-9391600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:9391400-9391800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:9391600-9392200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:9392600-9393200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr9:9396400-9397200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:9400200-9400800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:9400200-9401000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:9400600-9401600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:9400800-9405800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:9401000-9406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:9401800-9402600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:9405000-9407000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:9405400-9407000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:9405600-9405800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:9405800-9406200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:9405800-9406400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr9:9405800-9406600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr9:9405800-9406800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:9406200-9406600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:9406200-9406600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:9406200-9407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:9406800-9407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:9407000-9407200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr9:9407000-9407800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr9:9407000-9408400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:9408200-9409000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr9:9408400-9411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:9409000-9409400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr9:9409400-9410800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr9:9410400-9411800	Enhancers	Brain Hippocampus Middle	brain
40	chr9:9410600-9411000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:9410800-9411200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr9:9411200-9411800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr9:9411400-9412000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:9411400-9412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:9411800-9412600	Enhancers	Fetal Brain Female	brain
46	chr9:9411800-9413800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:9412000-9412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:9412000-9412400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:9412400-9412600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:9412600-9413600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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