Variant report

Variant	nsv1016971
Chromosome Location	chr9:17648242-17720176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1867 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1867 , 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	rs534539758	chr9:17648317-17648318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577000077	chr9:17648322-17648323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540840326	chr9:17648340-17648341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113310387	chr9:17648369-17648370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567241244	chr9:17648371-17648372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537855710	chr9:17648399-17648400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368940422	chr9:17648445-17648446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112046146	chr9:17648465-17648466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577692820	chr9:17648467-17648468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574812780	chr9:17648494-17648495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541814324	chr9:17648509-17648510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141719364	chr9:17648530-17648531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374192826	chr9:17648594-17648595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73645110	chr9:17648634-17648635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564489515	chr9:17648636-17648637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180892823	chr9:17648711-17648712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17451095	chr9:17648727-17648728	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs529217800	chr9:17648777-17648778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74858494	chr9:17648810-17648811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3808728	chr9:17648861-17648862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs183856552	chr9:17648864-17648865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556746935	chr9:17648884-17648885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188620016	chr9:17648885-17648886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560629657	chr9:17648949-17648950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546313921	chr9:17648962-17648963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181276421	chr9:17648963-17648964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549662287	chr9:17648966-17648967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145421465	chr9:17648988-17648989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138040104	chr9:17649027-17649028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572036439	chr9:17649037-17649038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571243368	chr9:17649039-17649040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199884438	chr9:17649045-17649046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545929070	chr9:17649072-17649073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563905179	chr9:17649085-17649086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111762211	chr9:17649090-17649091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553590508	chr9:17649109-17649110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571883885	chr9:17649127-17649128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543459128	chr9:17649136-17649137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185797865	chr9:17649139-17649140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141660918	chr9:17649140-17649141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191742405	chr9:17649145-17649146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544277339	chr9:17649176-17649177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182213980	chr9:17649195-17649196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35683172	chr9:17649224-17649225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577968490	chr9:17649229-17649230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568728290	chr9:17649241-17649242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560582426	chr9:17649264-17649265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527871755	chr9:17649327-17649328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529653961	chr9:17649359-17649360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548205163	chr9:17649366-17649367	Enhancers Weak transcription	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:77 , 50 per page) page: 1 2

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

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