Variant report

Variant	nsv1031845
Chromosome Location	chr9:1492361-1554752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:
2	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
3	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
4	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:

Extended variants
information (count: 3071 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3071 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112580618	chr9:1492378-1492379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539495502	chr9:1492400-1492401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377756533	chr9:1492415-1492416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11999114	chr9:1492496-1492497	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77571867	chr9:1492521-1492522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147880652	chr9:1492535-1492536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555960294	chr9:1492574-1492575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575826213	chr9:1492582-1492583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542236434	chr9:1492587-1492588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11999141	chr9:1492601-1492602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76987939	chr9:1492603-1492604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113478194	chr9:1492611-1492612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145452342	chr9:1492623-1492624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539161796	chr9:1492625-1492626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572804038	chr9:1492628-1492629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528239316	chr9:1492631-1492632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548067800	chr9:1492644-1492645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145226592	chr9:1492650-1492651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530702739	chr9:1492654-1492655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550895428	chr9:1492672-1492673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570424655	chr9:1492684-1492685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539457274	chr9:1492727-1492728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546691502	chr9:1492740-1492741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11999157	chr9:1492744-1492745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535572062	chr9:1492751-1492752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148887786	chr9:1492782-1492783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117116778	chr9:1492833-1492834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12005247	chr9:1492873-1492874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143550399	chr9:1492881-1492882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151017894	chr9:1492887-1492888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7024824	chr9:1492890-1492891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540252558	chr9:1492947-1492948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182878986	chr9:1492971-1492972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574033195	chr9:1492977-1492978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543145143	chr9:1492981-1492982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75416597	chr9:1492997-1492998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530745812	chr9:1492999-1493000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544487157	chr9:1493011-1493012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530769101	chr9:1493016-1493017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564396787	chr9:1493017-1493018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533295368	chr9:1493040-1493041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112729465	chr9:1493041-1493042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144851036	chr9:1493049-1493050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566514195	chr9:1493056-1493057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528977509	chr9:1493064-1493065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138528087	chr9:1493080-1493081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367546946	chr9:1493097-1493098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569312025	chr9:1493100-1493101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538447904	chr9:1493127-1493128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188654222	chr9:1493158-1493159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1491200-1492400	Weak transcription	Psoas Muscle	Psoas
3	chr9:1492000-1493000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:1492200-1492800	Enhancers	Fetal Muscle Leg	muscle
5	chr9:1492400-1492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:1492400-1492600	Enhancers	Psoas Muscle	Psoas
7	chr9:1495800-1496000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:1496200-1496400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:1496800-1497000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:1497000-1497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
12	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
13	chr9:1511000-1511200	Enhancers	NHEK	skin
14	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
15	chr9:1512800-1514200	Enhancers	NHEK	skin
16	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
20	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
21	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
22	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
23	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
24	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
25	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:1515600-1516000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:1515600-1516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:1515800-1516200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:1521600-1522200	Enhancers	Fetal Muscle Leg	muscle
32	chr9:1521600-1523600	Enhancers	GM12878-XiMat	blood
33	chr9:1521800-1523000	Enhancers	Fetal Lung	lung
34	chr9:1522200-1522600	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:1522600-1523400	Enhancers	Fetal Muscle Leg	muscle
36	chr9:1522600-1523800	Enhancers	Adipose Nuclei	Adipose
37	chr9:1523400-1527800	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:1527800-1530000	Enhancers	Fetal Muscle Leg	muscle
39	chr9:1529600-1530000	Enhancers	Pancreas	Pancrea
40	chr9:1530000-1531200	Weak transcription	Pancreas	Pancrea
41	chr9:1531200-1532600	Enhancers	Pancreas	Pancrea
42	chr9:1531200-1533400	Enhancers	Fetal Muscle Leg	muscle
43	chr9:1531400-1533200	Enhancers	Fetal Stomach	stomach
44	chr9:1532400-1532600	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:1533200-1533400	Enhancers	Fetal Muscle Trunk	muscle
46	chr9:1535400-1537400	Enhancers	GM12878-XiMat	blood
47	chr9:1549400-1558600	Weak transcription	Adipose Nuclei	Adipose
48	chr9:1550600-1551000	Enhancers	Fetal Muscle Leg	muscle
49	chr9:1551000-1553200	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:1553200-1554600	Enhancers	Fetal Muscle Leg	muscle

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