Variant report

Variant	nsv892674
Chromosome Location	chr9:17631186-17699981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2397 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2397 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs975697	chr9:17631186-17631187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569764618	chr9:17631202-17631203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139592969	chr9:17631204-17631205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1998246	chr9:17631208-17631209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs112881253	chr9:17631216-17631217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549692326	chr9:17631239-17631240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144310886	chr9:17631250-17631251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538552434	chr9:17631255-17631256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547708104	chr9:17631258-17631259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565841136	chr9:17631276-17631277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192337135	chr9:17631285-17631286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573709612	chr9:17631288-17631289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555360235	chr9:17631322-17631323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531772868	chr9:17631333-17631334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545174204	chr9:17631338-17631339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573783366	chr9:17631342-17631343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184719075	chr9:17631365-17631366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371647712	chr9:17631396-17631397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3824386	chr9:17631400-17631401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578155105	chr9:17631425-17631426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545282480	chr9:17631464-17631465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550884413	chr9:17631483-17631484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146535379	chr9:17631486-17631487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1998247	chr9:17631552-17631553	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs189645609	chr9:17631571-17631572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560901090	chr9:17631583-17631584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369574644	chr9:17631589-17631590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531410723	chr9:17631593-17631594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193052038	chr9:17631596-17631597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564920580	chr9:17631656-17631657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2208495	chr9:17631694-17631695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184448334	chr9:17631719-17631720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142219758	chr9:17631721-17631722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529973413	chr9:17631786-17631787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548944364	chr9:17631795-17631796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3808737	chr9:17631806-17631807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs73645107	chr9:17631897-17631898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78394602	chr9:17631908-17631909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150358054	chr9:17631926-17631927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189201806	chr9:17631933-17631934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7846864	chr9:17631982-17631983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565254679	chr9:17632000-17632001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572364195	chr9:17632038-17632039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372615093	chr9:17632039-17632040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543369004	chr9:17632078-17632079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181895670	chr9:17632091-17632092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186578203	chr9:17632136-17632137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60304781	chr9:17632151-17632152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543057709	chr9:17632162-17632163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138132104	chr9:17632186-17632187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	23813976	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17626400-17633200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:17628400-17631200	Weak transcription	NH-A	brain
3	chr9:17629800-17631200	Weak transcription	Liver	Liver
4	chr9:17630000-17633200	Weak transcription	Fetal Brain Male	brain
5	chr9:17630400-17631200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr9:17630600-17631400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:17630600-17631600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:17630600-17631800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:17630600-17632000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:17630800-17637800	Enhancers	Hela-S3	cervix
11	chr9:17631000-17631400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:17631000-17633600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:17631200-17631800	Enhancers	NH-A	brain
14	chr9:17631200-17632000	Enhancers	Liver	Liver
15	chr9:17631400-17631800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr9:17633200-17633400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:17633200-17633400	Enhancers	Fetal Brain Male	brain
18	chr9:17633400-17642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:17633600-17634200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr9:17646800-17648200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:17648200-17649000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr9:17648200-17652200	Enhancers	Hela-S3	cervix
23	chr9:17649000-17651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:17649200-17649400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:17650600-17652200	Enhancers	Fetal Brain Male	brain
26	chr9:17650800-17652200	Enhancers	Fetal Brain Female	brain
27	chr9:17651200-17652000	Enhancers	Brain Germinal Matrix	brain
28	chr9:17651200-17652200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr9:17652200-17652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr9:17652200-17653200	Weak transcription	Hela-S3	cervix
31	chr9:17652200-17653600	Weak transcription	Fetal Brain Male	brain
32	chr9:17652200-17653600	Weak transcription	Fetal Brain Female	brain
33	chr9:17652800-17653400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:17653200-17653800	Enhancers	Hela-S3	cervix
35	chr9:17653400-17654400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr9:17653600-17654200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:17653600-17654200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:17653600-17655400	Enhancers	Fetal Brain Female	brain
39	chr9:17653600-17655600	Enhancers	Fetal Brain Male	brain
40	chr9:17654400-17655000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:17655000-17657000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr9:17655400-17655800	Weak transcription	Fetal Brain Female	brain
43	chr9:17655800-17656000	Enhancers	Fetal Brain Female	brain
44	chr9:17656000-17660000	Weak transcription	Fetal Brain Female	brain
45	chr9:17656400-17656800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:17656800-17657200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:17657000-17658400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr9:17657000-17659000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:17657200-17657400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:17657200-17657400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links