Variant report

Variant	nsv466145
Chromosome Location	chr9:9816955-9855408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 677 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80152062	chr9:9820066-9820067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149319750	chr9:9820110-9820111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563910776	chr9:9820165-9820166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75971064	chr9:9820169-9820170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549725693	chr9:9820177-9820178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568031857	chr9:9820194-9820195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533850825	chr9:9820196-9820197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547440821	chr9:9820202-9820203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143624813	chr9:9820241-9820242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576123458	chr9:9820272-9820273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190236499	chr9:9820273-9820274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549562963	chr9:9820277-9820278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569543277	chr9:9820278-9820279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555364992	chr9:9820318-9820319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535349353	chr9:9820372-9820373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12552705	chr9:9820375-9820376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571965584	chr9:9820391-9820392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2761758	chr9:9820401-9820402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10739200	chr9:9820412-9820413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76001700	chr9:9820445-9820446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558188470	chr9:9820467-9820468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371202995	chr9:9820474-9820475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148033448	chr9:9820488-9820489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182476654	chr9:9820492-9820493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532957302	chr9:9820498-9820499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185663678	chr9:9820504-9820505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556261939	chr9:9820509-9820510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574317568	chr9:9820541-9820542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189389596	chr9:9820570-9820571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559816154	chr9:9820616-9820617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113276522	chr9:9820623-9820624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547069791	chr9:9820632-9820633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181016538	chr9:9820635-9820636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116367673	chr9:9820703-9820704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543630553	chr9:9820736-9820737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185695676	chr9:9820763-9820764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188693195	chr9:9820773-9820774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12336546	chr9:9820811-9820812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181469842	chr9:9820817-9820818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562806262	chr9:9820885-9820886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186167608	chr9:9820952-9820953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574429391	chr9:9820985-9820986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536173398	chr9:9820995-9820996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547124632	chr9:9825231-9825232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181626261	chr9:9825244-9825245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539253109	chr9:9825306-9825307	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549624611	chr9:9825307-9825308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569843813	chr9:9825314-9825315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10816191	chr9:9825326-9825327	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35778702	chr9:9825339-9825340	Active TSS	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9820000-9821000	Enhancers	NH-A	brain
2	chr9:9825200-9825400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:9825400-9825600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:9832800-9834600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:9834200-9834600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:9845200-9845800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:9845400-9846200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:9845400-9846200	Enhancers	Dnd41	blood
9	chr9:9845800-9846800	Enhancers	Primary hematopoietic stem cells	blood
10	chr9:9845800-9847000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:9845800-9847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr9:9846200-9847000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:9846200-9847000	Flanking Active TSS	Dnd41	blood
14	chr9:9846600-9847000	Active TSS	GM12878-XiMat	blood
15	chr9:9846800-9847200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:9847000-9848200	Enhancers	Dnd41	blood
17	chr9:9847000-9848400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:9847000-9848600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:9847200-9848400	Enhancers	Primary hematopoietic stem cells	blood
20	chr9:9847600-9847800	Enhancers	GM12878-XiMat	blood
21	chr9:9847600-9848200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:9847600-9848200	Enhancers	Placenta	Placenta
23	chr9:9848200-9855000	Weak transcription	Placenta	Placenta
24	chr9:9848600-9855400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:9853600-9853800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:9854000-9855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:9855000-9855200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr9:9855000-9855600	Enhancers	Dnd41	blood
29	chr9:9855000-9856200	Enhancers	Fetal Thymus	thymus
30	chr9:9855000-9856400	Enhancers	Placenta	Placenta
31	chr9:9855200-9855400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:9855200-9855600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr9:9855400-9855600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:9855400-9855800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr9:9855400-9855800	Enhancers	Primary T cells from cord blood	blood
36	chr9:9855400-9855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:9855400-9856000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr9:9855400-9856000	Enhancers	Thymus	Thymus

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