Variant report

Variant	nsv1029136
Chromosome Location	chr9:9847852-9863465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 796 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573422104	chr9:9847874-9847875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7858919	chr9:9847892-9847893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150919593	chr9:9847922-9847923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545298749	chr9:9847941-9847942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565567406	chr9:9847975-9847976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7872395	chr9:9847984-9847985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140749053	chr9:9847996-9847997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563161745	chr9:9848158-9848159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528964302	chr9:9848170-9848171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549086862	chr9:9848189-9848190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150164859	chr9:9848215-9848216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561140282	chr9:9848263-9848264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530020830	chr9:9848268-9848269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113960024	chr9:9848303-9848304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528292733	chr9:9848304-9848305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78572059	chr9:9848319-9848320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571480290	chr9:9848338-9848339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112958542	chr9:9848360-9848361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536951398	chr9:9848388-9848389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556328912	chr9:9848392-9848393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10816206	chr9:9848393-9848394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372898575	chr9:9848401-9848402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377164579	chr9:9848436-9848437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370951836	chr9:9848441-9848442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573045914	chr9:9848448-9848449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539210713	chr9:9848462-9848463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12349554	chr9:9848485-9848486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111538598	chr9:9848496-9848497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538875169	chr9:9848504-9848505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551565194	chr9:9848539-9848540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575845451	chr9:9848544-9848545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544596585	chr9:9848547-9848548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192001268	chr9:9848565-9848566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370173496	chr9:9848573-9848574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182682135	chr9:9848577-9848578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185174044	chr9:9848627-9848628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528184236	chr9:9848648-9848649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536179651	chr9:9848655-9848656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34927091	chr9:9848680-9848681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573952953	chr9:9848681-9848682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141311926	chr9:9848684-9848685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9408795	chr9:9848686-9848687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189834315	chr9:9848691-9848692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371208465	chr9:9848752-9848753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553675909	chr9:9848771-9848772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567250862	chr9:9848790-9848791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146976187	chr9:9848824-9848825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9408796	chr9:9848848-9848849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182484382	chr9:9848904-9848905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538757939	chr9:9848915-9848916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9847000-9848200	Enhancers	Dnd41	blood
2	chr9:9847000-9848400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:9847000-9848600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:9847200-9848400	Enhancers	Primary hematopoietic stem cells	blood
5	chr9:9847600-9848200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:9847600-9848200	Enhancers	Placenta	Placenta
7	chr9:9848200-9855000	Weak transcription	Placenta	Placenta
8	chr9:9848600-9855400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:9853600-9853800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:9854000-9855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:9855000-9855200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:9855000-9855600	Enhancers	Dnd41	blood
13	chr9:9855000-9856200	Enhancers	Fetal Thymus	thymus
14	chr9:9855000-9856400	Enhancers	Placenta	Placenta
15	chr9:9855200-9855400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:9855200-9855600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:9855400-9855600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:9855400-9855800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr9:9855400-9855800	Enhancers	Primary T cells from cord blood	blood
20	chr9:9855400-9855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:9855400-9856000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr9:9855400-9856000	Enhancers	Thymus	Thymus
23	chr9:9855600-9855800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:9855600-9856000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:9855600-9856000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:9855600-9857400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:9855600-9861000	Weak transcription	Dnd41	blood
28	chr9:9855800-9856000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:9856000-9856200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:9856200-9860800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:9856200-9862400	Weak transcription	Fetal Thymus	thymus
32	chr9:9857400-9858400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:9860200-9861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:9860800-9861600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:9861000-9862200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:9861000-9862200	Enhancers	Dnd41	blood
37	chr9:9861400-9862600	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:9861600-9862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:9862000-9863000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:9862200-9862400	Active TSS	Thymus	Thymus
41	chr9:9862200-9862600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:9862200-9862800	Flanking Active TSS	Dnd41	blood
43	chr9:9862400-9862800	Enhancers	Primary T cells from cord blood	blood
44	chr9:9862400-9862800	Flanking Active TSS	Thymus	Thymus
45	chr9:9862400-9863000	Enhancers	Fetal Thymus	thymus
46	chr9:9862600-9862800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:9862800-9863600	Enhancers	Thymus	Thymus
48	chr9:9862800-9863800	Enhancers	Dnd41	blood
49	chr9:9863000-9863400	Weak transcription	Fetal Thymus	thymus
50	chr9:9863400-9863600	Enhancers	Fetal Thymus	thymus

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