Variant report

Variant	nsv1021022
Chromosome Location	chr9:17649360-17723730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1866 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1866 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548205163	chr9:17649366-17649367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111894784	chr9:17649368-17649369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549625582	chr9:17649370-17649371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150536923	chr9:17649371-17649372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115394917	chr9:17649472-17649473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570284072	chr9:17649514-17649515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550214712	chr9:17649530-17649531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541188268	chr9:17649544-17649545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9407826	chr9:17649566-17649567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527782890	chr9:17649582-17649583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547056742	chr9:17649588-17649589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61604118	chr9:17649594-17649595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187229300	chr9:17649599-17649600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570870013	chr9:17649615-17649616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558584804	chr9:17649635-17649636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16935833	chr9:17649656-17649657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537312013	chr9:17649698-17649699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114982262	chr9:17649738-17649739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149254169	chr9:17649744-17649745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58823247	chr9:17649790-17649791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560546973	chr9:17649821-17649822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3808727	chr9:17649842-17649843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs201380007	chr9:17649863-17649864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369829565	chr9:17649914-17649915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552791517	chr9:17649915-17649916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190909184	chr9:17649926-17649927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561425375	chr9:17649939-17649940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568372987	chr9:17649948-17649949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544068159	chr9:17649949-17649950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565456748	chr9:17649950-17649951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73645111	chr9:17649968-17649969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199673069	chr9:17649990-17649991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376349323	chr9:17649992-17649993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539087550	chr9:17650005-17650006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7039627	chr9:17650027-17650028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547891698	chr9:17650032-17650033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569786047	chr9:17650040-17650041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536866909	chr9:17650058-17650059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75903242	chr9:17650111-17650112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182381933	chr9:17650162-17650163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558766024	chr9:17650175-17650176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373654487	chr9:17650177-17650178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539031444	chr9:17650182-17650183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554246254	chr9:17650189-17650190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185425022	chr9:17650193-17650194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543094892	chr9:17650230-17650231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555120438	chr9:17650259-17650260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190186650	chr9:17650276-17650277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543692075	chr9:17650278-17650279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182820351	chr9:17650342-17650343	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17648200-17652200	Enhancers	Hela-S3	cervix
2	chr9:17649000-17651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:17649200-17649400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:17650600-17652200	Enhancers	Fetal Brain Male	brain
5	chr9:17650800-17652200	Enhancers	Fetal Brain Female	brain
6	chr9:17651200-17652000	Enhancers	Brain Germinal Matrix	brain
7	chr9:17651200-17652200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:17652200-17652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:17652200-17653200	Weak transcription	Hela-S3	cervix
10	chr9:17652200-17653600	Weak transcription	Fetal Brain Male	brain
11	chr9:17652200-17653600	Weak transcription	Fetal Brain Female	brain
12	chr9:17652800-17653400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:17653200-17653800	Enhancers	Hela-S3	cervix
14	chr9:17653400-17654400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:17653600-17654200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:17653600-17654200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:17653600-17655400	Enhancers	Fetal Brain Female	brain
18	chr9:17653600-17655600	Enhancers	Fetal Brain Male	brain
19	chr9:17654400-17655000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr9:17655000-17657000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:17655400-17655800	Weak transcription	Fetal Brain Female	brain
22	chr9:17655800-17656000	Enhancers	Fetal Brain Female	brain
23	chr9:17656000-17660000	Weak transcription	Fetal Brain Female	brain
24	chr9:17656400-17656800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:17656800-17657200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:17657000-17658400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr9:17657000-17659000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:17657200-17657400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:17657200-17657400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:17657200-17657800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:17657200-17657800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:17657200-17657800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:17657200-17658000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:17657400-17658200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:17658200-17658400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:17658400-17658800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:17658400-17659400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr9:17658800-17659000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:17658800-17659200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:17659400-17659800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:17659800-17663000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr9:17660000-17660400	Enhancers	Fetal Brain Female	brain
43	chr9:17661200-17662200	Enhancers	Hela-S3	cervix
44	chr9:17662000-17662800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:17662800-17663200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:17663000-17664000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr9:17663200-17663800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:17664000-17665000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr9:17665000-17665400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr9:17665400-17666200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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